nsv4597171
- 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:137,496
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: 1084 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 718 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4597171 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 189,969,273 | 190,106,768 |
| nsv4597171 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 306,804 | 378,547 |
| nsv4597171 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 190,890,428 | 191,027,923 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16100945 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16100945 | Remapped | Pass | NT_187650.1:g.(?_3 06804)_(378547_?)d up | GRCh38.p12 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 306,804 | 378,547 |
| nssv16100945 | Remapped | Perfect | NC_000004.12:g.(?_ 189969273)_(190106 768_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,969,273 | 190,106,768 |
| nssv16100945 | Submitted genomic | NC_000004.11:g.(?_ 190890428)_(191027 923_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 190,890,428 | 191,027,923 |
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) |
|---|---|---|---|
| nssv16100945 | <0.001 | 1 | 5919 |