nsv4782852
- 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:2,520
- 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: 183 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 32 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4782852 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 9,017,280 (-3, +40) | 9,019,799 (-69) |
nsv4782852 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 9,077,339 (-3, +40) | 9,079,858 (-69) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16310434 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16310434 | Remapped | Perfect | NC_000001.11:g.(90 17277_9017320)_(90 19730_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 9,017,280 (-3, +40) | 9,019,799 (-69) |
nssv16310434 | Submitted genomic | NC_000001.10:g.(90 77336_9077379)_(90 79789_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 9,077,339 (-3, +40) | 9,079,858 (-69) |
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) |
---|---|---|---|
nssv16310434 | <0.001 | 1 | 16834 |