nsv4597964
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:738
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: 164 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4597964 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 179,795,657 | 179,796,394 |
| nsv4597964 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_016107298.1 | Chr5|NW_01 6107298.1 | 561,234 | 561,971 |
| nsv4597964 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 179,222,658 | 179,223,395 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16125062 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16125062 | Remapped | Perfect | NW_016107298.1:g.( ?_561234)_(561971_ ?)dup | GRCh38.p12 | Second Pass | NW_016107298.1 | Chr5|NW_01 6107298.1 | 561,234 | 561,971 |
| nssv16125062 | Remapped | Perfect | NC_000005.10:g.(?_ 179795657)_(179796 394_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 179,795,657 | 179,796,394 |
| nssv16125062 | Submitted genomic | NC_000005.9:g.(?_1 79222658)_(1792233 95_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 179,222,658 | 179,223,395 |
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) |
|---|---|---|---|
| nssv16125062 | 0.002 | 2 | 845 |