nsv4606251
- 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:126,356
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: 606 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 323 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 606 SVs from 73 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4606251 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 65,566,373 | 65,692,728 |
nsv4606251 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_013171806.1 | Chr10|NW_0 13171806.1 | 66,966 | 185,507 |
nsv4606251 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 67,326,131 | 67,452,486 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16128964 | deletion | Curated | Curated |
nssv16131049 | duplication | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16128964 | Remapped | Pass | NW_013171806.1:g.( ?_66966)_(185507_? )del | GRCh38.p12 | Second Pass | NW_013171806.1 | Chr10|NW_0 13171806.1 | 66,966 | 185,507 |
nssv16131049 | Remapped | Pass | NW_013171806.1:g.( ?_66966)_(185507_? )dup | GRCh38.p12 | Second Pass | NW_013171806.1 | Chr10|NW_0 13171806.1 | 66,966 | 185,507 |
nssv16128964 | Remapped | Perfect | NC_000010.11:g.(?_ 65566373)_(6569272 8_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 65,566,373 | 65,692,728 |
nssv16131049 | Remapped | Perfect | NC_000010.11:g.(?_ 65566373)_(6569272 8_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 65,566,373 | 65,692,728 |
nssv16128964 | Submitted genomic | NC_000010.10:g.(?_ 67326131)_(6745248 6_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 67,326,131 | 67,452,486 | ||
nssv16131049 | Submitted genomic | NC_000010.10:g.(?_ 67326131)_(6745248 6_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 67,326,131 | 67,452,486 |
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) |
---|---|---|---|
nssv16128964 | <0.001 | 1 | 5919 |
nssv16131049 | <0.001 | 1 | 5919 |