nsv4715310
- Organism: Homo sapiens
- Study:nstd195 (Mwapagha et al. 2021)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2
- Publication(s):Mwapagha 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: 180 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 67 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 83 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 74 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 83 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4715310 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 54,955,246 | 54,955,247 |
| nsv4715310 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 937,728 | 937,729 |
| nsv4715310 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 667,407 | 667,408 |
| nsv4715310 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 859,084 | 859,085 |
| nsv4715310 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 873,611 | 873,612 |
| nsv4715310 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 937,318 | 937,319 |
| nsv4715310 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 962,769 | 962,770 |
| nsv4715310 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 935,232 | 935,233 |
| nsv4715310 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 600,448 | 600,449 |
| nsv4715310 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 858,644 | 858,645 |
| nsv4715310 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 55,466,614 | 55,466,615 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16243831 | tandem duplication | B381 | Sequencing | Paired-end mapping | 1 | 5,743 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16243831 | Remapped | Perfect | NT_187693.1:g.9377 28_937729dup | GRCh38.p12 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 937,728 | 937,729 |
| nssv16243831 | Remapped | Perfect | NW_003571061.2:g.6 67407_667408dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 667,407 | 667,408 |
| nssv16243831 | Remapped | Perfect | NW_003571060.1:g.8 59084_859085dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 859,084 | 859,085 |
| nssv16243831 | Remapped | Perfect | NW_003571059.2:g.8 73611_873612dup | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 873,611 | 873,612 |
| nssv16243831 | Remapped | Perfect | NW_003571058.2:g.9 37318_937319dup | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 937,318 | 937,319 |
| nssv16243831 | Remapped | Perfect | NW_003571057.2:g.9 62769_962770dup | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 962,769 | 962,770 |
| nssv16243831 | Remapped | Perfect | NW_003571056.2:g.9 35232_935233dup | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 935,232 | 935,233 |
| nssv16243831 | Remapped | Perfect | NW_003571055.2:g.6 00448_600449dup | GRCh38.p12 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 600,448 | 600,449 |
| nssv16243831 | Remapped | Perfect | NW_003571054.1:g.8 58644_858645dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 858,644 | 858,645 |
| nssv16243831 | Remapped | Perfect | NC_000019.10:g.549 55246_54955247dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 54,955,246 | 54,955,247 |
| nssv16243831 | Submitted genomic | NC_000019.9:g.5546 6614_55466615dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,466,614 | 55,466,615 |