nsv4584738
- 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:4,942
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: 92 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 18 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4584738 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 9,532,143 | 9,537,084 |
nsv4584738 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 9,672,272 | 9,677,213 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16092145 | duplication | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16092145 | Remapped | Perfect | NC_000002.12:g.(?_ 9532143)_(9537084_ ?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 9,532,143 | 9,537,084 |
nssv16092145 | Submitted genomic | NC_000002.11:g.(?_ 9672272)_(9677213_ ?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 9,672,272 | 9,677,213 |
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) |
---|---|---|---|
nssv16092145 | 0.001 | 1 | 845 |