nsv471615
- Organism: Homo sapiens
- Study:nstd32 (Sharp et al. 2005)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:150,617
- Publication(s):Sharp et al. 2005
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: 513 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 518 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471615 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 238,020,396 | 238,171,012 |
| nsv471615 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 238,183,696 | 238,334,312 |
| nsv471615 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000001.7 | Chr1 | 235,224,845 | 235,375,461 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv549245 | copy number loss | GM10470A | BAC aCGH | Probe signal intensity | 49 |
| nssv549246 | copy number loss | GM10471 | BAC aCGH | Probe signal intensity | 51 |
| nssv549247 | copy number loss | GM10496A | BAC aCGH | Probe signal intensity | 59 |
| nssv549248 | copy number gain | GM15724 | BAC aCGH | Probe signal intensity | 41 |
| nssv549249 | copy number gain | GM15727 | BAC aCGH | Probe signal intensity | 44 |
| nssv549250 | copy number gain | GM15731 | BAC aCGH | Probe signal intensity | 42 |
| nssv549251 | copy number gain | GM17059A | BAC aCGH | Probe signal intensity | 44 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv549245 | Remapped | Perfect | NC_000001.11:g.(?_ 238020396)_(238171 012_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 238,020,396 | 238,171,012 |
| nssv549246 | Remapped | Perfect | NC_000001.11:g.(?_ 238020396)_(238171 012_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 238,020,396 | 238,171,012 |
| nssv549247 | Remapped | Perfect | NC_000001.11:g.(?_ 238020396)_(238171 012_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 238,020,396 | 238,171,012 |
| nssv549248 | Remapped | Perfect | NC_000001.11:g.(?_ 238020396)_(238171 012_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 238,020,396 | 238,171,012 |
| nssv549249 | Remapped | Perfect | NC_000001.11:g.(?_ 238020396)_(238171 012_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 238,020,396 | 238,171,012 |
| nssv549250 | Remapped | Perfect | NC_000001.11:g.(?_ 238020396)_(238171 012_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 238,020,396 | 238,171,012 |
| nssv549251 | Remapped | Perfect | NC_000001.11:g.(?_ 238020396)_(238171 012_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 238,020,396 | 238,171,012 |
| nssv549245 | Remapped | Perfect | NC_000001.10:g.(?_ 238183696)_(238334 312_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 238,183,696 | 238,334,312 |
| nssv549246 | Remapped | Perfect | NC_000001.10:g.(?_ 238183696)_(238334 312_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 238,183,696 | 238,334,312 |
| nssv549247 | Remapped | Perfect | NC_000001.10:g.(?_ 238183696)_(238334 312_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 238,183,696 | 238,334,312 |
| nssv549248 | Remapped | Perfect | NC_000001.10:g.(?_ 238183696)_(238334 312_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 238,183,696 | 238,334,312 |
| nssv549249 | Remapped | Perfect | NC_000001.10:g.(?_ 238183696)_(238334 312_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 238,183,696 | 238,334,312 |
| nssv549250 | Remapped | Perfect | NC_000001.10:g.(?_ 238183696)_(238334 312_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 238,183,696 | 238,334,312 |
| nssv549251 | Remapped | Perfect | NC_000001.10:g.(?_ 238183696)_(238334 312_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 238,183,696 | 238,334,312 |
| nssv549245 | Submitted genomic | NC_000001.7:g.(?_2 35224845)_(2353754 61_?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 235,224,845 | 235,375,461 | ||
| nssv549246 | Submitted genomic | NC_000001.7:g.(?_2 35224845)_(2353754 61_?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 235,224,845 | 235,375,461 | ||
| nssv549247 | Submitted genomic | NC_000001.7:g.(?_2 35224845)_(2353754 61_?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 235,224,845 | 235,375,461 | ||
| nssv549248 | Submitted genomic | NC_000001.7:g.(?_2 35224845)_(2353754 61_?)dup | NCBI34 (hg16) | NC_000001.7 | Chr1 | 235,224,845 | 235,375,461 | ||
| nssv549249 | Submitted genomic | NC_000001.7:g.(?_2 35224845)_(2353754 61_?)dup | NCBI34 (hg16) | NC_000001.7 | Chr1 | 235,224,845 | 235,375,461 | ||
| nssv549250 | Submitted genomic | NC_000001.7:g.(?_2 35224845)_(2353754 61_?)dup | NCBI34 (hg16) | NC_000001.7 | Chr1 | 235,224,845 | 235,375,461 | ||
| nssv549251 | Submitted genomic | NC_000001.7:g.(?_2 35224845)_(2353754 61_?)dup | NCBI34 (hg16) | NC_000001.7 | Chr1 | 235,224,845 | 235,375,461 |