nsv4964864
- 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:11,926
- 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: 119 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 119 SVs from 34 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4964864 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 79,445,949 (-56, +1) | 79,457,874 (+95) | ||
nsv4964864 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 79,075,265 (-56, +1) | 79,087,190 (+95) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16495910 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16495910 | Submitted genomic | NC_000007.14:g.(79 445893_79445950)_( ?_79457969)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 79,445,949 (-56, +1) | 79,457,874 (+95) | ||
nssv16495910 | Remapped | Perfect | NC_000007.13:g.(79 075209_79075266)_( ?_79087285)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 79,075,265 (-56, +1) | 79,087,190 (+95) |
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) |
---|---|---|---|
nssv16495910 | <0.001 | 1 | 29246 |