nsv4858858
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,973
- 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: 175 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 173 SVs from 37 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4858858 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 42,944,787 (-2, +83) | 42,948,759 (-101, +2) |
nsv4858858 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 41,096,804 (-2, +83) | 41,100,776 (-101, +2) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16368524 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16368524 | Remapped | Perfect | NC_000017.11:g.(42 944785_42944870)_( 42948658_42948761) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 42,944,787 (-2, +83) | 42,948,759 (-101, +2) |
nssv16368524 | Submitted genomic | NC_000017.10:g.(41 096802_41096887)_( 41100675_41100778) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 41,096,804 (-2, +83) | 41,100,776 (-101, +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) |
---|---|---|---|
nssv16368524 | <0.001 | 1 | 16834 |