nsv469588
- Organism: Homo sapiens
- Study:nstd29 (Locke et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:183,166
- Publication(s):Locke et al. 2006
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: 966 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 966 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv469588 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 99,820,295 | 100,003,460 |
| nsv469588 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 99,155,999 | 99,339,164 |
| nsv469588 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000005.7 | Chr5 | 99,232,215 | 99,415,380 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1673651 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1674350 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1674479 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1674532 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1675211 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1675942 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1676705 | copy number loss | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1673651 | Remapped | Perfect | NC_000005.10:g.(?_ 99820295)_(1000034 60_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 99,820,295 | 100,003,460 |
| nssv1674350 | Remapped | Perfect | NC_000005.10:g.(?_ 99820295)_(1000034 60_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 99,820,295 | 100,003,460 |
| nssv1674479 | Remapped | Perfect | NC_000005.10:g.(?_ 99820295)_(1000034 60_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 99,820,295 | 100,003,460 |
| nssv1674532 | Remapped | Perfect | NC_000005.10:g.(?_ 99820295)_(1000034 60_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 99,820,295 | 100,003,460 |
| nssv1675211 | Remapped | Perfect | NC_000005.10:g.(?_ 99820295)_(1000034 60_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 99,820,295 | 100,003,460 |
| nssv1675942 | Remapped | Perfect | NC_000005.10:g.(?_ 99820295)_(1000034 60_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 99,820,295 | 100,003,460 |
| nssv1676705 | Remapped | Perfect | NC_000005.10:g.(?_ 99820295)_(1000034 60_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 99,820,295 | 100,003,460 |
| nssv1673651 | Remapped | Perfect | NC_000005.9:g.(?_9 9155999)_(99339164 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 99,155,999 | 99,339,164 |
| nssv1674350 | Remapped | Perfect | NC_000005.9:g.(?_9 9155999)_(99339164 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 99,155,999 | 99,339,164 |
| nssv1674479 | Remapped | Perfect | NC_000005.9:g.(?_9 9155999)_(99339164 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 99,155,999 | 99,339,164 |
| nssv1674532 | Remapped | Perfect | NC_000005.9:g.(?_9 9155999)_(99339164 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 99,155,999 | 99,339,164 |
| nssv1675211 | Remapped | Perfect | NC_000005.9:g.(?_9 9155999)_(99339164 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 99,155,999 | 99,339,164 |
| nssv1675942 | Remapped | Perfect | NC_000005.9:g.(?_9 9155999)_(99339164 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 99,155,999 | 99,339,164 |
| nssv1676705 | Remapped | Perfect | NC_000005.9:g.(?_9 9155999)_(99339164 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 99,155,999 | 99,339,164 |
| nssv1673651 | Submitted genomic | NC_000005.7:g.(?_9 9232215)_(99415380 _?)del | NCBI34 (hg16) | NC_000005.7 | Chr5 | 99,232,215 | 99,415,380 | ||
| nssv1674350 | Submitted genomic | NC_000005.7:g.(?_9 9232215)_(99415380 _?)del | NCBI34 (hg16) | NC_000005.7 | Chr5 | 99,232,215 | 99,415,380 | ||
| nssv1674479 | Submitted genomic | NC_000005.7:g.(?_9 9232215)_(99415380 _?)del | NCBI34 (hg16) | NC_000005.7 | Chr5 | 99,232,215 | 99,415,380 | ||
| nssv1674532 | Submitted genomic | NC_000005.7:g.(?_9 9232215)_(99415380 _?)del | NCBI34 (hg16) | NC_000005.7 | Chr5 | 99,232,215 | 99,415,380 | ||
| nssv1675211 | Submitted genomic | NC_000005.7:g.(?_9 9232215)_(99415380 _?)del | NCBI34 (hg16) | NC_000005.7 | Chr5 | 99,232,215 | 99,415,380 | ||
| nssv1675942 | Submitted genomic | NC_000005.7:g.(?_9 9232215)_(99415380 _?)del | NCBI34 (hg16) | NC_000005.7 | Chr5 | 99,232,215 | 99,415,380 | ||
| nssv1676705 | Submitted genomic | NC_000005.7:g.(?_9 9232215)_(99415380 _?)del | NCBI34 (hg16) | NC_000005.7 | Chr5 | 99,232,215 | 99,415,380 |