nsv870073
- Organism: Homo sapiens
- Study:nstd53 (Tuttelmann et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:19
- Validation:Not tested
- Clinical Assertions: No
- Region Size:44,032
- Publication(s):Tüttelmann et al. 2011
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1283 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1283 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 679 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv870073 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 303,298 | 307,939 | 343,989 | 347,329 |
| nsv870073 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 303,298 | 307,939 | 343,989 | 347,329 |
| nsv870073 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 248,298 | 252,939 | 288,989 | 292,329 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1498108 | copy number gain | OAT_17 | Oligo aCGH | Probe signal intensity | 27 |
| nssv1497583 | copy number loss | SCOS_27 | Oligo aCGH | Probe signal intensity | 25 |
| nssv1498766 | copy number loss | CONTROL_58 | Oligo aCGH | Probe signal intensity | 26 |
| nssv1496525 | copy number loss | CONTROL_35 | Oligo aCGH | Probe signal intensity | 9 |
| nssv1496762 | copy number loss | CONTROL_34 | Oligo aCGH | Probe signal intensity | 8 |
| nssv1497834 | copy number loss | CONTROL_28 | Oligo aCGH | Probe signal intensity | 11 |
| nssv1497199 | copy number loss | OAT_06 | Oligo aCGH | Probe signal intensity | 18 |
| nssv1497395 | copy number loss | SCOS_07 | Oligo aCGH | Probe signal intensity | 20 |
| nssv1497872 | copy number gain | CONTROL_83 | Oligo aCGH | Probe signal intensity | 31 |
| nssv1498886 | copy number loss | OAT_36 | Oligo aCGH | Probe signal intensity | 14 |
| nssv1498255 | copy number gain | OAT_75 | Oligo aCGH | Probe signal intensity | 30 |
| nssv1497205 | copy number loss | SCOS_15 | Oligo aCGH | Probe signal intensity | 13 |
| nssv1496890 | copy number loss | CONTROL_50 | Oligo aCGH | Probe signal intensity | 19 |
| nssv1498647 | copy number gain | SCOS_24 | Oligo aCGH | Probe signal intensity | 15 |
| nssv1495809 | copy number loss | OAT_05 | Oligo aCGH | Probe signal intensity | 18 |
| nssv1496531 | copy number loss | OAT_02 | Oligo aCGH | Probe signal intensity | 17 |
| nssv1496335 | copy number gain | CONTROL_06 | Oligo aCGH | Probe signal intensity | 11 |
| nssv1497021 | copy number gain | CONTROL_88 | Oligo aCGH | Probe signal intensity | 11 |
| nssv1498474 | copy number gain | OAT_80 | Oligo aCGH | Probe signal intensity | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1498108 | Remapped | Perfect | NC_000006.12:g.(25 5409_259881)_(3439 89_347329)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 255,409 | 259,881 | 343,989 | 347,329 |
| nssv1497583 | Remapped | Perfect | NC_000006.12:g.(25 5409_259881)_(3668 07_369877)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 255,409 | 259,881 | 366,807 | 369,877 |
| nssv1498766 | Remapped | Perfect | NC_000006.12:g.(25 5409_259881)_(3699 35_373496)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 255,409 | 259,881 | 369,935 | 373,496 |
| nssv1496525 | Remapped | Perfect | NC_000006.12:g.(25 5409_259528)_(3759 49_378898)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 255,409 | 259,528 | 375,949 | 378,898 |
| nssv1496762 | Remapped | Perfect | NC_000006.12:g.(25 5409_259528)_(3759 49_378898)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 255,409 | 259,528 | 375,949 | 378,898 |
| nssv1497834 | Remapped | Perfect | NC_000006.12:g.(25 5409_259528)_(3759 49_378898)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 255,409 | 259,528 | 375,949 | 378,898 |
| nssv1497199 | Remapped | Perfect | NC_000006.12:g.(25 5409_259881)_(3789 56_384100)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 255,409 | 259,881 | 378,956 | 384,100 |
| nssv1497395 | Remapped | Perfect | NC_000006.12:g.(25 5409_259881)_(3789 56_384100)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 255,409 | 259,881 | 378,956 | 384,100 |
| nssv1497872 | Remapped | Perfect | NC_000006.12:g.(25 5409_259881)_(3789 56_384100)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 255,409 | 259,881 | 378,956 | 384,100 |
| nssv1498886 | Remapped | Perfect | NC_000006.12:g.(25 5409_259881)_(3789 56_384100)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 255,409 | 259,881 | 378,956 | 384,100 |
| nssv1498255 | Remapped | Perfect | NC_000006.12:g.(28 7425_291535)_(3789 56_384100)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 287,425 | 291,535 | 378,956 | 384,100 |
| nssv1497205 | Remapped | Perfect | NC_000006.12:g.(29 1594_299363)_(3735 55_378898)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 291,594 | 299,363 | 373,555 | 378,898 |
| nssv1496890 | Remapped | Perfect | NC_000006.12:g.(29 1594_299363)_(3789 56_384100)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 291,594 | 299,363 | 378,956 | 384,100 |
| nssv1498647 | Remapped | Perfect | NC_000006.12:g.(29 1594_299363)_(3841 57_389423)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 291,594 | 299,363 | 384,157 | 389,423 |
| nssv1495809 | Remapped | Perfect | NC_000006.12:g.(29 9422_303239)_(3735 55_378898)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 299,422 | 303,239 | 373,555 | 378,898 |
| nssv1496531 | Remapped | Perfect | NC_000006.12:g.(29 9422_303239)_(3789 56_384100)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 299,422 | 303,239 | 378,956 | 384,100 |
| nssv1496335 | Remapped | Perfect | NC_000006.12:g.(30 3298_307939)_(3759 49_378898)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 303,298 | 307,939 | 375,949 | 378,898 |
| nssv1497021 | Remapped | Perfect | NC_000006.12:g.(30 3298_307939)_(3759 49_378898)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 303,298 | 307,939 | 375,949 | 378,898 |
| nssv1498474 | Remapped | Perfect | NC_000006.12:g.(30 3298_307939)_(3759 49_378898)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 303,298 | 307,939 | 375,949 | 378,898 |
| nssv1498108 | Remapped | Perfect | NC_000006.11:g.(25 5409_259881)_(3439 89_347329)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 255,409 | 259,881 | 343,989 | 347,329 |
| nssv1497583 | Remapped | Perfect | NC_000006.11:g.(25 5409_259881)_(3668 07_369877)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 255,409 | 259,881 | 366,807 | 369,877 |
| nssv1498766 | Remapped | Perfect | NC_000006.11:g.(25 5409_259881)_(3699 35_373496)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 255,409 | 259,881 | 369,935 | 373,496 |
| nssv1496525 | Remapped | Perfect | NC_000006.11:g.(25 5409_259528)_(3759 49_378898)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 255,409 | 259,528 | 375,949 | 378,898 |
| nssv1496762 | Remapped | Perfect | NC_000006.11:g.(25 5409_259528)_(3759 49_378898)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 255,409 | 259,528 | 375,949 | 378,898 |
| nssv1497834 | Remapped | Perfect | NC_000006.11:g.(25 5409_259528)_(3759 49_378898)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 255,409 | 259,528 | 375,949 | 378,898 |
| nssv1497199 | Remapped | Perfect | NC_000006.11:g.(25 5409_259881)_(3789 56_384100)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 255,409 | 259,881 | 378,956 | 384,100 |
| nssv1497395 | Remapped | Perfect | NC_000006.11:g.(25 5409_259881)_(3789 56_384100)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 255,409 | 259,881 | 378,956 | 384,100 |
| nssv1497872 | Remapped | Perfect | NC_000006.11:g.(25 5409_259881)_(3789 56_384100)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 255,409 | 259,881 | 378,956 | 384,100 |
| nssv1498886 | Remapped | Perfect | NC_000006.11:g.(25 5409_259881)_(3789 56_384100)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 255,409 | 259,881 | 378,956 | 384,100 |
| nssv1498255 | Remapped | Perfect | NC_000006.11:g.(28 7425_291535)_(3789 56_384100)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 287,425 | 291,535 | 378,956 | 384,100 |
| nssv1497205 | Remapped | Perfect | NC_000006.11:g.(29 1594_299363)_(3735 55_378898)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 291,594 | 299,363 | 373,555 | 378,898 |
| nssv1496890 | Remapped | Perfect | NC_000006.11:g.(29 1594_299363)_(3789 56_384100)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 291,594 | 299,363 | 378,956 | 384,100 |
| nssv1498647 | Remapped | Perfect | NC_000006.11:g.(29 1594_299363)_(3841 57_389423)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 291,594 | 299,363 | 384,157 | 389,423 |
| nssv1495809 | Remapped | Perfect | NC_000006.11:g.(29 9422_303239)_(3735 55_378898)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 299,422 | 303,239 | 373,555 | 378,898 |
| nssv1496531 | Remapped | Perfect | NC_000006.11:g.(29 9422_303239)_(3789 56_384100)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 299,422 | 303,239 | 378,956 | 384,100 |
| nssv1496335 | Remapped | Perfect | NC_000006.11:g.(30 3298_307939)_(3759 49_378898)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 303,298 | 307,939 | 375,949 | 378,898 |
| nssv1497021 | Remapped | Perfect | NC_000006.11:g.(30 3298_307939)_(3759 49_378898)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 303,298 | 307,939 | 375,949 | 378,898 |
| nssv1498474 | Remapped | Perfect | NC_000006.11:g.(30 3298_307939)_(3759 49_378898)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 303,298 | 307,939 | 375,949 | 378,898 |
| nssv1498108 | Submitted genomic | NC_000006.10:g.(20 0409_204881)_(2889 89_292329)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 200,409 | 204,881 | 288,989 | 292,329 | ||
| nssv1497583 | Submitted genomic | NC_000006.10:g.(20 0409_204881)_(3118 07_314877)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 200,409 | 204,881 | 311,807 | 314,877 | ||
| nssv1498766 | Submitted genomic | NC_000006.10:g.(20 0409_204881)_(3149 35_318496)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 200,409 | 204,881 | 314,935 | 318,496 | ||
| nssv1496525 | Submitted genomic | NC_000006.10:g.(20 0409_204528)_(3209 49_323898)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 200,409 | 204,528 | 320,949 | 323,898 | ||
| nssv1496762 | Submitted genomic | NC_000006.10:g.(20 0409_204528)_(3209 49_323898)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 200,409 | 204,528 | 320,949 | 323,898 | ||
| nssv1497834 | Submitted genomic | NC_000006.10:g.(20 0409_204528)_(3209 49_323898)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 200,409 | 204,528 | 320,949 | 323,898 | ||
| nssv1497199 | Submitted genomic | NC_000006.10:g.(20 0409_204881)_(3239 56_329100)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 200,409 | 204,881 | 323,956 | 329,100 | ||
| nssv1497395 | Submitted genomic | NC_000006.10:g.(20 0409_204881)_(3239 56_329100)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 200,409 | 204,881 | 323,956 | 329,100 | ||
| nssv1497872 | Submitted genomic | NC_000006.10:g.(20 0409_204881)_(3239 56_329100)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 200,409 | 204,881 | 323,956 | 329,100 | ||
| nssv1498886 | Submitted genomic | NC_000006.10:g.(20 0409_204881)_(3239 56_329100)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 200,409 | 204,881 | 323,956 | 329,100 | ||
| nssv1498255 | Submitted genomic | NC_000006.10:g.(23 2425_236535)_(3239 56_329100)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 232,425 | 236,535 | 323,956 | 329,100 | ||
| nssv1497205 | Submitted genomic | NC_000006.10:g.(23 6594_244363)_(3185 55_323898)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 236,594 | 244,363 | 318,555 | 323,898 | ||
| nssv1496890 | Submitted genomic | NC_000006.10:g.(23 6594_244363)_(3239 56_329100)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 236,594 | 244,363 | 323,956 | 329,100 | ||
| nssv1498647 | Submitted genomic | NC_000006.10:g.(23 6594_244363)_(3291 57_334423)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 236,594 | 244,363 | 329,157 | 334,423 | ||
| nssv1495809 | Submitted genomic | NC_000006.10:g.(24 4422_248239)_(3185 55_323898)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 244,422 | 248,239 | 318,555 | 323,898 | ||
| nssv1496531 | Submitted genomic | NC_000006.10:g.(24 4422_248239)_(3239 56_329100)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 244,422 | 248,239 | 323,956 | 329,100 | ||
| nssv1496335 | Submitted genomic | NC_000006.10:g.(24 8298_252939)_(3209 49_323898)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 248,298 | 252,939 | 320,949 | 323,898 | ||
| nssv1497021 | Submitted genomic | NC_000006.10:g.(24 8298_252939)_(3209 49_323898)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 248,298 | 252,939 | 320,949 | 323,898 | ||
| nssv1498474 | Submitted genomic | NC_000006.10:g.(24 8298_252939)_(3209 49_323898)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 248,298 | 252,939 | 320,949 | 323,898 |