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dbVar

Database of genomic structural variation

nsv3339639

Organism: Homo sapiens

Study:nstd162 (Audano et al. 2019)
Variant Type:mobile element deletion
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:2,018

Description:Absence of a HERV insertion that is present in the reference
Publication(s):Audano et al. 2019

Links to Other Resources

Overlapping Genes

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: 316 SVs from 54 studies. See in: genome view

Submitted genomic45,381,023-45,383,040

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3339639	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	45,381,023	45,383,040
nsv3339639	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	45,955,158	45,957,175

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14718107	herv deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563
nssv14721887	herv deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14724884	herv deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14725665	herv deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14727889	herv deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14730741	herv deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14718107	Submitted genomic		NC_000013.11:g.453 81023_45383040del	GRCh38 (hg38)		NC_000013.11	Chr13	45,381,023	45,383,040
nssv14721887	Submitted genomic		NC_000013.11:g.453 81023_45383040del	GRCh38 (hg38)		NC_000013.11	Chr13	45,381,023	45,383,040
nssv14724884	Submitted genomic		NC_000013.11:g.453 81023_45383040del	GRCh38 (hg38)		NC_000013.11	Chr13	45,381,023	45,383,040
nssv14725665	Submitted genomic		NC_000013.11:g.453 81023_45383040del	GRCh38 (hg38)		NC_000013.11	Chr13	45,381,023	45,383,040
nssv14727889	Submitted genomic		NC_000013.11:g.453 81023_45383040del	GRCh38 (hg38)		NC_000013.11	Chr13	45,381,023	45,383,040
nssv14730741	Submitted genomic		NC_000013.11:g.453 81023_45383040del	GRCh38 (hg38)		NC_000013.11	Chr13	45,381,023	45,383,040
nssv14718107	Remapped	Perfect	NC_000013.10:g.459 55158_45957175delN C_000013.10:g.4595 5158_45957175del	GRCh37.p13	First Pass	NC_000013.10	Chr13	45,955,158	45,957,175
nssv14721887	Remapped	Perfect	NC_000013.10:g.459 55158_45957175delN C_000013.10:g.4595 5158_45957175del	GRCh37.p13	First Pass	NC_000013.10	Chr13	45,955,158	45,957,175
nssv14724884	Remapped	Perfect	NC_000013.10:g.459 55158_45957175delN C_000013.10:g.4595 5158_45957175del	GRCh37.p13	First Pass	NC_000013.10	Chr13	45,955,158	45,957,175
nssv14725665	Remapped	Perfect	NC_000013.10:g.459 55158_45957175delN C_000013.10:g.4595 5158_45957175del	GRCh37.p13	First Pass	NC_000013.10	Chr13	45,955,158	45,957,175
nssv14727889	Remapped	Perfect	NC_000013.10:g.459 55158_45957175delN C_000013.10:g.4595 5158_45957175del	GRCh37.p13	First Pass	NC_000013.10	Chr13	45,955,158	45,957,175
nssv14730741	Remapped	Perfect	NC_000013.10:g.459 55158_45957175delN C_000013.10:g.4595 5158_45957175del	GRCh37.p13	First Pass	NC_000013.10	Chr13	45,955,158	45,957,175

Showing 12 of 18

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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