nsv4885006
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:580
- Publication(s):Abel et al. 2020
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: 564 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 343 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 328 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 328 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 330 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 330 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 343 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 328 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 568 SVs from 78 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4885006 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 195,740,694 (-4, +4) | 195,741,268 (-8, +8) |
| nsv4885006 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 111,191 (-4, +4) | 111,765 (-8, +8) |
| nsv4885006 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 53,463 (-4, +4) | 54,037 (-8, +8) |
| nsv4885006 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 53,467 (-4, +4) | 54,041 (-8, +8) |
| nsv4885006 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 53,579 (-4, +4) | 54,158 (-8, +8) |
| nsv4885006 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 54,776 (-4, +4) | 55,350 (-8, +8) |
| nsv4885006 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 111,191 (-4, +4) | 111,765 (-8, +8) |
| nsv4885006 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 53,463 (-4, +4) | 54,037 (-8, +8) |
| nsv4885006 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,467,565 (-4, +4) | 195,468,139 (-8, +8) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16402660 | line1 deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16402660 | Remapped | Perfect | NT_187688.1:g.(534 59_53467)_(54029_5 4045)del | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 53,463 (-4, +4) | 54,037 (-8, +8) |
| nssv16402660 | Remapped | Perfect | NT_187690.1:g.(534 63_53471)_(54033_5 4049)del | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 53,467 (-4, +4) | 54,041 (-8, +8) |
| nssv16402660 | Remapped | Good | NT_187691.1:g.(535 75_53583)_(54150_5 4166)del | GRCh38.p12 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 53,579 (-4, +4) | 54,158 (-8, +8) |
| nssv16402660 | Remapped | Perfect | NT_187678.1:g.(547 72_54780)_(55342_5 5358)del | GRCh38.p12 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 54,776 (-4, +4) | 55,350 (-8, +8) |
| nssv16402660 | Remapped | Perfect | NT_187689.1:g.(111 187_111195)_(11175 7_111773)del | GRCh38.p12 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 111,191 (-4, +4) | 111,765 (-8, +8) |
| nssv16402660 | Remapped | Perfect | NT_187649.1:g.(534 59_53467)_(54029_5 4045)del | GRCh38.p12 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 53,463 (-4, +4) | 54,037 (-8, +8) |
| nssv16402660 | Remapped | Perfect | NT_187532.1:g.(111 187_111195)_(11175 7_111773)del | GRCh38.p12 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 111,191 (-4, +4) | 111,765 (-8, +8) |
| nssv16402660 | Remapped | Perfect | NC_000003.12:g.(19 5740690_195740698) _(195741260_195741 276)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,740,694 (-4, +4) | 195,741,268 (-8, +8) |
| nssv16402660 | Submitted genomic | NC_000003.11:g.(19 5467561_195467569) _(195468131_195468 147)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,467,565 (-4, +4) | 195,468,139 (-8, +8) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16402660 | <0.001 | 15 | 16834 |