nsv4599315
- 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:659,906
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: 2779 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 951 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 2778 SVs from 115 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4599315 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 143,568,048 | 144,227,953 |
| nsv4599315 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654714.1 | Chr7|NW_01 8654714.1 | 187,412 | 589,656 |
| nsv4599315 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 143,265,141 | 143,925,046 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16122774 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16122774 | Remapped | Pass | NW_018654714.1:g.( ?_187412)_(589656_ ?)dup | GRCh38.p12 | Second Pass | NW_018654714.1 | Chr7|NW_01 8654714.1 | 187,412 | 589,656 |
| nssv16122774 | Remapped | Perfect | NC_000007.14:g.(?_ 143568048)_(144227 953_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,568,048 | 144,227,953 |
| nssv16122774 | Submitted genomic | NC_000007.13:g.(?_ 143265141)_(143925 046_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 143,265,141 | 143,925,046 |
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) |
|---|---|---|---|
| nssv16122774 | 0.002 | 2 | 845 |