nsv4804667
- 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:31,022
- 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: 288 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 288 SVs from 48 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4804667 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 227,712,013 (-1, +1) | 227,743,034 (-1, +1) |
nsv4804667 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 228,576,729 (-1, +1) | 228,607,750 (-1, +1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16391678 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16391678 | Remapped | Perfect | NC_000002.12:g.(22 7712012_227712014) _(227743033_227743 035)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,712,013 (-1, +1) | 227,743,034 (-1, +1) |
nssv16391678 | Submitted genomic | NC_000002.11:g.(22 8576728_228576730) _(228607749_228607 751)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 228,576,729 (-1, +1) | 228,607,750 (-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) |
---|---|---|---|
nssv16391678 | <0.001 | 2 | 16834 |