nsv4805327
- 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:9,780
- 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: 285 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 285 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4805327 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 21,196,066 | 21,205,843 |
| nsv4805327 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_009646199.1 | Chr5|NW_00 9646199.1 | 97,720 | 107,499 |
| nsv4805327 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 21,196,175 | 21,205,952 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16394188 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16394188 | Remapped | Good | NW_009646199.1:g.9 7720_107499dup | GRCh38.p12 | Second Pass | NW_009646199.1 | Chr5|NW_00 9646199.1 | 97,720 | 107,499 |
| nssv16394188 | Remapped | Perfect | NC_000005.10:g.211 96066_21205843dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,196,066 | 21,205,843 |
| nssv16394188 | Submitted genomic | NC_000005.9:g.2119 6175_21205952dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 21,196,175 | 21,205,952 |
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) |
|---|---|---|---|
| nssv16394188 | <0.001 | 3 | 16834 |