nsv590343
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,460
- Publication(s):Cooper 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: 153 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 152 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 63 SVs from 11 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 |
---|---|---|---|---|---|---|---|---|---|
nsv590343 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 53,044,876 | 53,046,335 |
nsv590343 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 53,078,892 | 53,080,351 |
nsv590343 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 53,053,932 | 53,055,391 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv963320 | copy number gain | SNP array | SNP genotyping analysis |
nssv963321 | copy number loss | SNP array | SNP genotyping analysis |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv963320 | Remapped | Perfect | NC_000003.12:g.(?_ 53044876)_(5304633 5_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 53,044,876 | 53,046,335 |
nssv963321 | Remapped | Perfect | NC_000003.12:g.(?_ 53044876)_(5304633 5_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 53,044,876 | 53,046,335 |
nssv963320 | Remapped | Perfect | NC_000003.11:g.(?_ 53078892)_(5308035 1_?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 53,078,892 | 53,080,351 |
nssv963321 | Remapped | Perfect | NC_000003.11:g.(?_ 53078892)_(5308035 1_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 53,078,892 | 53,080,351 |
nssv963320 | Submitted genomic | NC_000003.10:g.(?_ 53053932)_(5305539 1_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 53,053,932 | 53,055,391 | ||
nssv963321 | Submitted genomic | NC_000003.10:g.(?_ 53053932)_(5305539 1_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 53,053,932 | 53,055,391 |