nsv4919985
- Organism: Homo sapiens
- Study:nstd200 (Abel 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:1,652
- Publication(s):Abel et al. 2020
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: 105 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 22 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4919985 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 127,596,223 (-1, +99) | 127,597,874 (-75, +2) | ||
nsv4919985 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 127,315,066 (-1, +99) | 127,316,717 (-75, +2) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16448894 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16448894 | Submitted genomic | NC_000003.12:g.(12 7596222_127596322) _(127597799_127597 876)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 127,596,223 (-1, +99) | 127,597,874 (-75, +2) | ||
nssv16448894 | Remapped | Perfect | NC_000003.11:g.(12 7315065_127315165) _(127316642_127316 719)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 127,315,066 (-1, +99) | 127,316,717 (-75, +2) |
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) |
---|---|---|---|
nssv16448894 | <0.001 | 1 | 29246 |