nsv4570999
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:sequence alteration
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:689,809
- Description:complex variant
- Publication(s):gnomAD_Structural_Variants
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: 1254 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 327 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 1250 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4570999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 45,571,732 | 46,261,540 |
| nsv4570999 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 273,871 | 954,783 |
| nsv4570999 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 43,649,098 | 44,338,906 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15788531 | sequence alteration | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv15788531 | Remapped | Good | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 273,871 | 954,783 |
| nssv15788531 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,571,732 | 46,261,540 |
| nssv15788531 | Submitted genomic | GRCh37.p13 | NC_000017.10 | Chr17 | 43,649,098 | 44,338,906 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv15788531 | 0.099 | 2128 | 21460 |