nsv4597481
- 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:6,348
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: 221 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 221 SVs from 63 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4597481 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 79,966,840 | 79,973,187 |
nsv4597481 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_009646199.1 | Chr5|NW_00 9646199.1 | 109,277 | 115,578 |
nsv4597481 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 80,887,994 | 80,894,341 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16094006 | duplication | Curated | Curated |
nssv16094656 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16094006 | Remapped | Perfect | NC_000004.12:g.(?_ 79966840)_(7997318 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 79,966,840 | 79,973,187 |
nssv16094656 | Remapped | Perfect | NC_000004.12:g.(?_ 79966840)_(7997318 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 79,966,840 | 79,973,187 |
nssv16094006 | Remapped | Good | NW_009646199.1:g.( ?_109277)_(115578_ ?)dup | GRCh38.p12 | Second Pass | NW_009646199.1 | Chr5|NW_00 9646199.1 | 109,277 | 115,578 |
nssv16094656 | Remapped | Good | NW_009646199.1:g.( ?_109277)_(115578_ ?)del | GRCh38.p12 | Second Pass | NW_009646199.1 | Chr5|NW_00 9646199.1 | 109,277 | 115,578 |
nssv16094006 | Submitted genomic | NC_000004.11:g.(?_ 80887994)_(8089434 1_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 80,887,994 | 80,894,341 | ||
nssv16094656 | Submitted genomic | NC_000004.11:g.(?_ 80887994)_(8089434 1_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 80,887,994 | 80,894,341 |
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) |
---|---|---|---|
nssv16094006 | 0.002 | 2 | 845 |
nssv16094656 | 0.011 | 9 | 845 |