nsv6616739
- Organism: Homo sapiens
- Study:nstd223 (Sedlazeck et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:277,094
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: 796 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 544 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 245 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6616739 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 98,806,653 | 99,083,746 | ||
| nsv6616739 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 98,404,276 | 98,556,215 |
| nsv6616739 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003571041.1 | Chr7|NW_00 3571041.1 | 175,835 | 327,774 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18221259 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18221259 | Submitted genomic | NC_000007.14:g.988 06653_99083746dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 98,806,653 | 99,083,746 | ||
| nssv18221259 | Remapped | Pass | NW_003571041.1:g.1 75835_327774dup | GRCh37.p13 | First Pass | NW_003571041.1 | Chr7|NW_00 3571041.1 | 175,835 | 327,774 |
| nssv18221259 | Remapped | Pass | NC_000007.13:g.984 04276_98556215dup | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 98,404,276 | 98,556,215 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv18221259 | <0.001 | 1 | 39268 |