nsv4605005
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:133,982
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: 627 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 627 SVs from 66 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4605005 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 10,486,995 | 10,620,976 |
nsv4605005 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 10,526,622 | 10,660,603 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16116978 | deletion | Curated | Curated |
nssv16122350 | duplication | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16116978 | Remapped | Perfect | NC_000007.14:g.(?_ 10486995)_(1062097 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 10,486,995 | 10,620,976 |
nssv16122350 | Remapped | Perfect | NC_000007.14:g.(?_ 10486995)_(1062097 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 10,486,995 | 10,620,976 |
nssv16116978 | Submitted genomic | NC_000007.13:g.(?_ 10526622)_(1066060 3_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 10,526,622 | 10,660,603 | ||
nssv16122350 | Submitted genomic | NC_000007.13:g.(?_ 10526622)_(1066060 3_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 10,526,622 | 10,660,603 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv16116978 | <0.001 | 1 | 5919 |
nssv16122350 | <0.001 | 5 | 5919 |