nsv2731451
- Organism: Homo sapiens
- Study:nstd130 (Leppa et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:561,536
- Publication(s):Leppa et al. 2016
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: 4153 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 4152 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1269 SVs from 25 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 |
---|---|---|---|---|---|---|---|---|---|
nsv2731451 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 37,476,672 | 38,038,207 |
nsv2731451 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 37,870,474 | 38,432,009 |
nsv2731451 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 36,156,741 | 36,718,276 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv13597526 | deletion | SNP array | Probe signal intensity |
nssv13603425 | deletion | SNP array | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv13597526 | Remapped | Perfect | NC_000012.12:g.(?_ 37476672)_(3803820 7_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,476,672 | 38,038,207 |
nssv13603425 | Remapped | Perfect | NC_000012.12:g.(?_ 37476672)_(3803820 7_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,476,672 | 38,038,207 |
nssv13597526 | Remapped | Perfect | NC_000012.11:g.(?_ 37870474)_(3843200 9_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 37,870,474 | 38,432,009 |
nssv13603425 | Remapped | Perfect | NC_000012.11:g.(?_ 37870474)_(3843200 9_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 37,870,474 | 38,432,009 |
nssv13597526 | Submitted genomic | NC_000012.10:g.(?_ 36156741)_(3671827 6_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,156,741 | 36,718,276 | ||
nssv13603425 | Submitted genomic | NC_000012.10:g.(?_ 36156741)_(3671827 6_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,156,741 | 36,718,276 |