nsv4855953
- 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:851
- 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: 117 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 28 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4855953 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 40,725,898 (-20, +20) | 40,726,748 (-15, +15) |
nsv4855953 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 41,018,096 (-20, +20) | 41,018,946 (-15, +15) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16364543 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16364543 | Remapped | Perfect | NC_000015.10:g.(40 725878_40725918)_( 40726733_40726763) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 40,725,898 (-20, +20) | 40,726,748 (-15, +15) |
nssv16364543 | Submitted genomic | NC_000015.9:g.(410 18076_41018116)_(4 1018931_41018961)d el | GRCh37 (hg19) | NC_000015.9 | Chr15 | 41,018,096 (-20, +20) | 41,018,946 (-15, +15) |
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) |
---|---|---|---|
nssv16364543 | <0.001 | 10 | 16834 |