nsv870408
- Organism: Homo sapiens
- Study:nstd53 (Tuttelmann et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:86,019
- 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: 2680 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 2680 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1292 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv870408 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,249,524 | 78,269,455 | 78,313,611 | 78,335,542 |
| nsv870408 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,959,241 | 78,979,172 | 79,023,328 | 79,045,259 |
| nsv870408 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 79,015,960 | 79,035,891 | 79,080,047 | 79,101,978 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1496419 | copy number loss | OAT_02 | Oligo aCGH | Probe signal intensity | 17 |
| nssv1496585 | copy number loss | OAT_04 | Oligo aCGH | Probe signal intensity | 20 |
| nssv1497092 | copy number gain | OAT_67 | Oligo aCGH | Probe signal intensity | 20 |
| nssv1497143 | copy number loss | CONTROL_85 | Oligo aCGH | Probe signal intensity | 19 |
| nssv1497387 | copy number loss | SCOS_30 | Oligo aCGH | Probe signal intensity | 13 |
| nssv1497603 | copy number loss | OAT_29 | Oligo aCGH | Probe signal intensity | 17 |
| nssv1497812 | copy number loss | SCOS_37 | Oligo aCGH | Probe signal intensity | 10 |
| nssv1498239 | copy number loss | SCOS_34 | Oligo aCGH | Probe signal intensity | 18 |
| nssv1498440 | copy number loss | SCOS_11 | Oligo aCGH | Probe signal intensity | 28 |
| nssv1498889 | copy number loss | SCOS_08 | Oligo aCGH | Probe signal intensity | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1496419 | Remapped | Perfect | NC_000006.12:g.(78 249524_78269455)_( 78313611_78335542) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,249,524 | 78,269,455 | 78,313,611 | 78,335,542 |
| nssv1496585 | Remapped | Perfect | NC_000006.12:g.(78 249524_78269455)_( 78313611_78335542) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,249,524 | 78,269,455 | 78,313,611 | 78,335,542 |
| nssv1497092 | Remapped | Perfect | NC_000006.12:g.(78 249524_78269455)_( 78313611_78335542) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,249,524 | 78,269,455 | 78,313,611 | 78,335,542 |
| nssv1497143 | Remapped | Perfect | NC_000006.12:g.(78 249524_78269455)_( 78313611_78335542) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,249,524 | 78,269,455 | 78,313,611 | 78,335,542 |
| nssv1497387 | Remapped | Perfect | NC_000006.12:g.(78 249524_78269455)_( 78313611_78335542) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,249,524 | 78,269,455 | 78,313,611 | 78,335,542 |
| nssv1497603 | Remapped | Perfect | NC_000006.12:g.(78 249524_78269455)_( 78313611_78335542) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,249,524 | 78,269,455 | 78,313,611 | 78,335,542 |
| nssv1497812 | Remapped | Perfect | NC_000006.12:g.(78 249524_78269455)_( 78313611_78335542) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,249,524 | 78,269,455 | 78,313,611 | 78,335,542 |
| nssv1498239 | Remapped | Perfect | NC_000006.12:g.(78 249524_78269455)_( 78313611_78335542) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,249,524 | 78,269,455 | 78,313,611 | 78,335,542 |
| nssv1498440 | Remapped | Perfect | NC_000006.12:g.(78 249524_78269455)_( 78313611_78335542) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,249,524 | 78,269,455 | 78,313,611 | 78,335,542 |
| nssv1498889 | Remapped | Perfect | NC_000006.12:g.(78 249524_78269455)_( 78313611_78335542) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,249,524 | 78,269,455 | 78,313,611 | 78,335,542 |
| nssv1496419 | Remapped | Perfect | NC_000006.11:g.(78 959241_78979172)_( 79023328_79045259) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,959,241 | 78,979,172 | 79,023,328 | 79,045,259 |
| nssv1496585 | Remapped | Perfect | NC_000006.11:g.(78 959241_78979172)_( 79023328_79045259) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,959,241 | 78,979,172 | 79,023,328 | 79,045,259 |
| nssv1497092 | Remapped | Perfect | NC_000006.11:g.(78 959241_78979172)_( 79023328_79045259) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,959,241 | 78,979,172 | 79,023,328 | 79,045,259 |
| nssv1497143 | Remapped | Perfect | NC_000006.11:g.(78 959241_78979172)_( 79023328_79045259) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,959,241 | 78,979,172 | 79,023,328 | 79,045,259 |
| nssv1497387 | Remapped | Perfect | NC_000006.11:g.(78 959241_78979172)_( 79023328_79045259) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,959,241 | 78,979,172 | 79,023,328 | 79,045,259 |
| nssv1497603 | Remapped | Perfect | NC_000006.11:g.(78 959241_78979172)_( 79023328_79045259) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,959,241 | 78,979,172 | 79,023,328 | 79,045,259 |
| nssv1497812 | Remapped | Perfect | NC_000006.11:g.(78 959241_78979172)_( 79023328_79045259) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,959,241 | 78,979,172 | 79,023,328 | 79,045,259 |
| nssv1498239 | Remapped | Perfect | NC_000006.11:g.(78 959241_78979172)_( 79023328_79045259) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,959,241 | 78,979,172 | 79,023,328 | 79,045,259 |
| nssv1498440 | Remapped | Perfect | NC_000006.11:g.(78 959241_78979172)_( 79023328_79045259) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,959,241 | 78,979,172 | 79,023,328 | 79,045,259 |
| nssv1498889 | Remapped | Perfect | NC_000006.11:g.(78 959241_78979172)_( 79023328_79045259) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,959,241 | 78,979,172 | 79,023,328 | 79,045,259 |
| nssv1496419 | Submitted genomic | NC_000006.10:g.(79 015960_79035891)_( 79080047_79101978) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,015,960 | 79,035,891 | 79,080,047 | 79,101,978 | ||
| nssv1496585 | Submitted genomic | NC_000006.10:g.(79 015960_79035891)_( 79080047_79101978) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,015,960 | 79,035,891 | 79,080,047 | 79,101,978 | ||
| nssv1497092 | Submitted genomic | NC_000006.10:g.(79 015960_79035891)_( 79080047_79101978) dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,015,960 | 79,035,891 | 79,080,047 | 79,101,978 | ||
| nssv1497143 | Submitted genomic | NC_000006.10:g.(79 015960_79035891)_( 79080047_79101978) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,015,960 | 79,035,891 | 79,080,047 | 79,101,978 | ||
| nssv1497387 | Submitted genomic | NC_000006.10:g.(79 015960_79035891)_( 79080047_79101978) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,015,960 | 79,035,891 | 79,080,047 | 79,101,978 | ||
| nssv1497603 | Submitted genomic | NC_000006.10:g.(79 015960_79035891)_( 79080047_79101978) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,015,960 | 79,035,891 | 79,080,047 | 79,101,978 | ||
| nssv1497812 | Submitted genomic | NC_000006.10:g.(79 015960_79035891)_( 79080047_79101978) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,015,960 | 79,035,891 | 79,080,047 | 79,101,978 | ||
| nssv1498239 | Submitted genomic | NC_000006.10:g.(79 015960_79035891)_( 79080047_79101978) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,015,960 | 79,035,891 | 79,080,047 | 79,101,978 | ||
| nssv1498440 | Submitted genomic | NC_000006.10:g.(79 015960_79035891)_( 79080047_79101978) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,015,960 | 79,035,891 | 79,080,047 | 79,101,978 | ||
| nssv1498889 | Submitted genomic | NC_000006.10:g.(79 015960_79035891)_( 79080047_79101978) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,015,960 | 79,035,891 | 79,080,047 | 79,101,978 |