nsv4945377
- 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:12,811
- 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: 189 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 189 SVs from 42 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4945377 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 85,854,740 (-61, +2) | 85,867,550 (-3, +49) | ||
nsv4945377 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 86,564,458 (-61, +2) | 86,577,268 (-3, +49) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16492218 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16492218 | Submitted genomic | NC_000006.12:g.(85 854679_85854742)_( 85867547_85867599) dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 85,854,740 (-61, +2) | 85,867,550 (-3, +49) | ||
nssv16492218 | Remapped | Perfect | NC_000006.11:g.(86 564397_86564460)_( 86577265_86577317) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 86,564,458 (-61, +2) | 86,577,268 (-3, +49) |
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) |
---|---|---|---|
nssv16492218 | <0.001 | 1 | 29246 |