nsv3940300
- Organism: Homo sapiens
- Study:nstd167 (Wenger et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:101
- Publication(s):Wenger et al. 2019
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: 36 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 25 SVs from 4 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3940300 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,101,312 | 54,101,412 |
| nsv3940300 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 75,712 | 75,808 |
| nsv3940300 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 75,712 | 75,808 |
| nsv3940300 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 75,712 | 75,808 |
| nsv3940300 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 75,712 | 75,808 |
| nsv3940300 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 75,712 | 75,808 |
| nsv3940300 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 75,712 | 75,808 |
| nsv3940300 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 75,712 | 75,808 |
| nsv3940300 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | First Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 75,712 | 75,808 |
| nsv3940300 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 75,712 | 75,808 |
| nsv3940300 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,604,599 | 54,604,695 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv15177410 | deletion | SAMN03283347 | Sequencing | de novo and local sequence assembly | Heterozygous | 30,634 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15177410 | Remapped | Perfect | NT_187693.1:g.7571 2_75808del | GRCh38.p12 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 75,712 | 75,808 |
| nssv15177410 | Remapped | Perfect | NW_003571061.2:g.7 5712_75808del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 75,712 | 75,808 |
| nssv15177410 | Remapped | Perfect | NW_003571057.2:g.7 5712_75808del | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 75,712 | 75,808 |
| nssv15177410 | Remapped | Perfect | NW_003571058.2:g.7 5712_75808del | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 75,712 | 75,808 |
| nssv15177410 | Remapped | Perfect | NW_003571059.2:g.7 5712_75808del | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 75,712 | 75,808 |
| nssv15177410 | Remapped | Perfect | NW_003571060.1:g.7 5712_75808del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 75,712 | 75,808 |
| nssv15177410 | Remapped | Perfect | NW_003571056.2:g.7 5712_75808del | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 75,712 | 75,808 |
| nssv15177410 | Remapped | Perfect | NW_003571055.2:g.7 5712_75808del | GRCh38.p12 | First Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 75,712 | 75,808 |
| nssv15177410 | Remapped | Perfect | NW_003571054.1:g.7 5712_75808del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 75,712 | 75,808 |
| nssv15177410 | Remapped | Good | NC_000019.10:g.541 01312_54101412del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,101,312 | 54,101,412 |
| nssv15177410 | Submitted genomic | NC_000019.9:g.5460 4599_54604695del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,604,599 | 54,604,695 |