nsv4827271
- 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:29,614
- 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: 199 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 199 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4827271 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 143,457,327 | 143,486,940 |
| nsv4827271 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654714.1 | Chr7|NW_01 8654714.1 | 76,691 | 106,304 |
| nsv4827271 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 143,154,420 | 143,184,033 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16344727 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16344727 | Remapped | Perfect | NW_018654714.1:g.7 6691_106304del | GRCh38.p12 | Second Pass | NW_018654714.1 | Chr7|NW_01 8654714.1 | 76,691 | 106,304 |
| nssv16344727 | Remapped | Perfect | NC_000007.14:g.143 457327_143486940de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,457,327 | 143,486,940 |
| nssv16344727 | Submitted genomic | NC_000007.13:g.143 154420_143184033de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 143,154,420 | 143,184,033 |
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) |
|---|---|---|---|
| nssv16344727 | <0.001 | 1 | 16834 |