nsv4860813
- 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:2,057
- 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: 281 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 281 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4860813 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 22,129,272 | 22,131,328 |
| nsv4860813 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315965.1 | Chr19|NW_0 03315965.1 | 177,546 | 179,602 |
| nsv4860813 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 22,312,074 | 22,314,130 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16372085 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16372085 | Remapped | Perfect | NW_003315965.1:g.1 77546_179602del | GRCh38.p12 | Second Pass | NW_003315965.1 | Chr19|NW_0 03315965.1 | 177,546 | 179,602 |
| nssv16372085 | Remapped | Perfect | NC_000019.10:g.221 29272_22131328del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 22,129,272 | 22,131,328 |
| nssv16372085 | Submitted genomic | NC_000019.9:g.2231 2074_22314130del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 22,312,074 | 22,314,130 |
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) |
|---|---|---|---|
| nssv16372085 | <0.001 | 4 | 16834 |