nsv4928323
- 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:522
- 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: 192 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 192 SVs from 41 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4928323 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 194,347,690 (-3, +3) | 194,348,211 (-1, +1) | ||
nsv4928323 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 194,068,419 (-3, +3) | 194,068,940 (-1, +1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16450909 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16450909 | Submitted genomic | NC_000003.12:g.(19 4347687_194347693) _(194348210_194348 212)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 194,347,690 (-3, +3) | 194,348,211 (-1, +1) | ||
nssv16450909 | Remapped | Perfect | NC_000003.11:g.(19 4068416_194068422) _(194068939_194068 941)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 194,068,419 (-3, +3) | 194,068,940 (-1, +1) |
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) |
---|---|---|---|
nssv16450909 | 0.36 | 10411 | 28908 |