nsv4592776
- 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:2,878
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: 94 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 7 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4592776 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 162,487,117 | 162,489,994 |
| nsv4592776 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315919.1 | Chr5|NW_00 3315919.1 | 57,132 | 60,009 |
| nsv4592776 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 161,914,123 | 161,917,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16112446 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16112446 | Remapped | Perfect | NW_003315919.1:g.( ?_57132)_(60009_?) del | GRCh38.p12 | Second Pass | NW_003315919.1 | Chr5|NW_00 3315919.1 | 57,132 | 60,009 |
| nssv16112446 | Remapped | Perfect | NC_000005.10:g.(?_ 162487117)_(162489 994_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 162,487,117 | 162,489,994 |
| nssv16112446 | Submitted genomic | NC_000005.9:g.(?_1 61914123)_(1619170 00_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 161,914,123 | 161,917,000 |
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) |
|---|---|---|---|
| nssv16112446 | <0.001 | 4 | 5919 |