nsv4745059
- 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:79
- 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: 100 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 23 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 25 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 25 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 20 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4745059 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,101,742 | 54,101,820 |
nsv4745059 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 76,162 | 76,240 |
nsv4745059 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 76,162 | 76,240 |
nsv4745059 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 76,162 | 76,240 |
nsv4745059 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 76,162 | 76,240 |
nsv4745059 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 76,162 | 76,240 |
nsv4745059 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 76,162 | 76,240 |
nsv4745059 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 76,162 | 76,240 |
nsv4745059 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | First Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 76,162 | 76,240 |
nsv4745059 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 76,162 | 76,240 |
nsv4745059 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,605,049 | 54,605,127 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16285929 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16285929 | Remapped | Perfect | NT_187693.1:g.7616 2_76240del | GRCh38.p12 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 76,162 | 76,240 |
nssv16285929 | Remapped | Perfect | NW_003571061.2:g.7 6162_76240del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 76,162 | 76,240 |
nssv16285929 | Remapped | Perfect | NW_003571057.2:g.7 6162_76240del | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 76,162 | 76,240 |
nssv16285929 | Remapped | Perfect | NW_003571058.2:g.7 6162_76240del | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 76,162 | 76,240 |
nssv16285929 | Remapped | Perfect | NW_003571059.2:g.7 6162_76240del | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 76,162 | 76,240 |
nssv16285929 | Remapped | Perfect | NW_003571060.1:g.7 6162_76240del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 76,162 | 76,240 |
nssv16285929 | Remapped | Perfect | NW_003571056.2:g.7 6162_76240del | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 76,162 | 76,240 |
nssv16285929 | Remapped | Perfect | NW_003571055.2:g.7 6162_76240del | GRCh38.p12 | First Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 76,162 | 76,240 |
nssv16285929 | Remapped | Perfect | NW_003571054.1:g.7 6162_76240del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 76,162 | 76,240 |
nssv16285929 | Remapped | Perfect | NC_000019.10:g.541 01742_54101820del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,101,742 | 54,101,820 |
nssv16285929 | Submitted genomic | NC_000019.9:g.5460 5049_54605127del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,605,049 | 54,605,127 |