nsv4747014
- Organism: Homo sapiens
- Study:nstd199 (Quan et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:19,743
- Publication(s):Quan et al. 2021
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: 1241 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1067 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1022 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1063 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1117 SVs from 84 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4747014 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,222,016 | 54,241,754 |
| nsv4747014 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 197,002 | 216,744 |
| nsv4747014 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 197,006 | 216,743 |
| nsv4747014 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 196,816 | 216,525 |
| nsv4747014 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,725,888 | 54,745,630 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16266689 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16266689 | Remapped | Perfect | NT_187693.1:g.1970 02_216744del | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 197,002 | 216,744 |
| nssv16266689 | Remapped | Good | NW_003571060.1:g.1 97006_216743del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 197,006 | 216,743 |
| nssv16266689 | Remapped | Good | NW_003571054.1:g.1 96816_216525del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 196,816 | 216,525 |
| nssv16266689 | Remapped | Good | NC_000019.10:g.542 22016_54241754del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,222,016 | 54,241,754 |
| nssv16266689 | Submitted genomic | NC_000019.9:g.5472 5888_54745630del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,725,888 | 54,745,630 |