nsv6235684
- Organism: Homo sapiens
- Study:nstd214 (Naslavsky et al. 2022)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Naslavsky et al. 2022
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: 142 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 142 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6235684 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 37,251,761 | 37,251,761 | ||
| nsv6235684 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 37,742,663 | 37,742,663 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17940824 | insertion | Sequencing | Sequence alignment |
| nssv17944502 | insertion | Sequencing | Sequence alignment |
| nssv17945026 | insertion | Sequencing | Sequence alignment |
| nssv17953480 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17940824 | Submitted genomic | NC_000019.10:g.372 51761_37251762ins7 5 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 37,251,761 | 37,251,761 | ||
| nssv17944502 | Submitted genomic | NC_000019.10:g.372 51761_37251762ins5 6 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 37,251,761 | 37,251,761 | ||
| nssv17945026 | Submitted genomic | NC_000019.10:g.372 51761_37251762ins5 5 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 37,251,761 | 37,251,761 | ||
| nssv17953480 | Submitted genomic | NC_000019.10:g.372 51761_37251762ins7 2 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 37,251,761 | 37,251,761 | ||
| nssv17940824 | Remapped | Perfect | NC_000019.9:g.3774 2663_37742664ins75 | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 37,742,663 | 37,742,663 |
| nssv17944502 | Remapped | Perfect | NC_000019.9:g.3774 2663_37742664ins56 | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 37,742,663 | 37,742,663 |
| nssv17945026 | Remapped | Perfect | NC_000019.9:g.3774 2663_37742664ins55 | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 37,742,663 | 37,742,663 |
| nssv17953480 | Remapped | Perfect | NC_000019.9:g.3774 2663_37742664ins72 | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 37,742,663 | 37,742,663 |
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) |
|---|---|---|---|
| nssv17940824 | <0.001 | 2 | 2254 |
| nssv17944502 | 0.002 | 5 | 2258 |
| nssv17945026 | 0.004 | 8 | 2264 |
| nssv17953480 | 0.002 | 5 | 2258 |