nsv6998554
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:228
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: 100 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6998554 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 41,717,027 | 41,717,254 | ||
| nsv6998554 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000019.9 | Chr19 | 42,220,946 | 42,221,173 |
| nsv6998554 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 286,066 | 286,293 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18640207 | duplication | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18640207 | Submitted genomic | NC_000019.10:g.417 17027_41717254dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 41,717,027 | 41,717,254 | ||
| nssv18640207 | Remapped | Perfect | NW_004775434.1:g.2 86066_286293dup | GRCh37.p13 | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 286,066 | 286,293 |
| nssv18640207 | Remapped | Perfect | NC_000019.9:g.4222 0946_42221173dup | GRCh37.p13 | Second Pass | NC_000019.9 | Chr19 | 42,220,946 | 42,221,173 |
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) |
|---|---|---|---|
| nssv18640207 | 4e-06 | 1 | 236180 |