nsv4761714
- Organism: Homo sapiens
- Study:nstd199 (Quan et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 837 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 573 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 578 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 580 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 591 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 580 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 573 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 591 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 841 SVs from 80 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4761714 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 195,712,763 | 195,712,763 |
nsv4761714 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 80,602 | 80,602 |
nsv4761714 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 80,909 | 80,909 |
nsv4761714 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 81,176 | 81,176 |
nsv4761714 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 83,260 | 83,260 |
nsv4761714 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 83,281 | 83,281 |
nsv4761714 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 80,395 | 80,395 |
nsv4761714 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 83,260 | 83,260 |
nsv4761714 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,439,634 | 195,439,634 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16270035 | insertion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16270035 | Remapped | Perfect | NT_187688.1:g.8060 2_80603ins491 | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 80,602 | 80,602 |
nssv16270035 | Remapped | Perfect | NT_187690.1:g.8090 9_80910ins491 | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 80,909 | 80,909 |
nssv16270035 | Remapped | Perfect | NT_187691.1:g.8117 6_81177ins491 | GRCh38.p12 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 81,176 | 81,176 |
nssv16270035 | Remapped | Perfect | NT_187689.1:g.8326 0_83261ins491 | GRCh38.p12 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 83,260 | 83,260 |
nssv16270035 | Remapped | Perfect | NT_187678.1:g.8328 1_83282ins491 | GRCh38.p12 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 83,281 | 83,281 |
nssv16270035 | Remapped | Perfect | NT_187649.1:g.8039 5_80396ins491 | GRCh38.p12 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 80,395 | 80,395 |
nssv16270035 | Remapped | Perfect | NT_187532.1:g.8326 0_83261ins491 | GRCh38.p12 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 83,260 | 83,260 |
nssv16270035 | Remapped | Perfect | NC_000003.12:g.195 712763_195712764in s491 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,712,763 | 195,712,763 |
nssv16270035 | Submitted genomic | NC_000003.11:g.195 439634_195439635in s491 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,439,634 | 195,439,634 |