nsv4836695
- 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:668
- 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: 121 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4836695 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 119,006,648 (-2, +2) | 119,007,315 (-2, +2) |
| nsv4836695 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646203.1 | Chr11|NW_0 09646203.1 | 28,248 (-2, +2) | 28,915 (-2, +2) |
| nsv4836695 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 118,877,358 (-2, +2) | 118,878,025 (-2, +2) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16340681 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16340681 | Remapped | Perfect | NW_009646203.1:g.( 28246_28250)_(2891 3_28917)del | GRCh38.p12 | Second Pass | NW_009646203.1 | Chr11|NW_0 09646203.1 | 28,248 (-2, +2) | 28,915 (-2, +2) |
| nssv16340681 | Remapped | Perfect | NC_000011.10:g.(11 9006646_119006650) _(119007313_119007 317)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 119,006,648 (-2, +2) | 119,007,315 (-2, +2) |
| nssv16340681 | Submitted genomic | NC_000011.9:g.(118 877356_118877360)_ (118878023_1188780 27)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 118,877,358 (-2, +2) | 118,878,025 (-2, +2) |
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) |
|---|---|---|---|
| nssv16340681 | <0.001 | 6 | 16834 |