nsv3374933

Organism: Homo sapiens

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

Variant Calls:14
Validation:Not tested
Clinical Assertions: No
Region Size:2,782

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

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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: 226 SVs from 60 studies. See in: genome view

Submitted genomic53,185,917-53,188,698

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3374933	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	53,185,917	53,188,698
nsv3374933	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	53,689,170	53,691,951

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14812090	sva deletion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134
nssv14812245	sva deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14812418	sva deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14812616	sva deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14812806	sva deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14813021	sva deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14813224	sva deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14813437	sva deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14813643	sva deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14813879	sva deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14814054	sva deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14814223	sva deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563
nssv14814457	sva deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14814709	sva deletion	SAMN06885952	Sequencing	de novo and local sequence assembly	28,070

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14812090	Submitted genomic		NC_000019.10:g.531 85917_53188698del	GRCh38 (hg38)		NC_000019.10	Chr19	53,185,917	53,188,698
nssv14812245	Submitted genomic		NC_000019.10:g.531 85917_53188698del	GRCh38 (hg38)		NC_000019.10	Chr19	53,185,917	53,188,698
nssv14812418	Submitted genomic		NC_000019.10:g.531 85917_53188698del	GRCh38 (hg38)		NC_000019.10	Chr19	53,185,917	53,188,698
nssv14812616	Submitted genomic		NC_000019.10:g.531 85917_53188698del	GRCh38 (hg38)		NC_000019.10	Chr19	53,185,917	53,188,698
nssv14812806	Submitted genomic		NC_000019.10:g.531 85917_53188698del	GRCh38 (hg38)		NC_000019.10	Chr19	53,185,917	53,188,698
nssv14813021	Submitted genomic		NC_000019.10:g.531 85917_53188698del	GRCh38 (hg38)		NC_000019.10	Chr19	53,185,917	53,188,698
nssv14813224	Submitted genomic		NC_000019.10:g.531 85917_53188698del	GRCh38 (hg38)		NC_000019.10	Chr19	53,185,917	53,188,698
nssv14813437	Submitted genomic		NC_000019.10:g.531 85917_53188698del	GRCh38 (hg38)		NC_000019.10	Chr19	53,185,917	53,188,698
nssv14813643	Submitted genomic		NC_000019.10:g.531 85917_53188698del	GRCh38 (hg38)		NC_000019.10	Chr19	53,185,917	53,188,698
nssv14813879	Submitted genomic		NC_000019.10:g.531 85917_53188698del	GRCh38 (hg38)		NC_000019.10	Chr19	53,185,917	53,188,698
nssv14814054	Submitted genomic		NC_000019.10:g.531 85917_53188698del	GRCh38 (hg38)		NC_000019.10	Chr19	53,185,917	53,188,698
nssv14814223	Submitted genomic		NC_000019.10:g.531 85917_53188698del	GRCh38 (hg38)		NC_000019.10	Chr19	53,185,917	53,188,698
nssv14814457	Submitted genomic		NC_000019.10:g.531 85917_53188698del	GRCh38 (hg38)		NC_000019.10	Chr19	53,185,917	53,188,698
nssv14814709	Submitted genomic		NC_000019.10:g.531 85917_53188698del	GRCh38 (hg38)		NC_000019.10	Chr19	53,185,917	53,188,698
nssv14812090	Remapped	Perfect	NC_000019.9:g.5368 9170_53691951delNC _000019.9:g.536891 70_53691951del	GRCh37.p13	First Pass	NC_000019.9	Chr19	53,689,170	53,691,951
nssv14812245	Remapped	Perfect	NC_000019.9:g.5368 9170_53691951delNC _000019.9:g.536891 70_53691951del	GRCh37.p13	First Pass	NC_000019.9	Chr19	53,689,170	53,691,951
nssv14812418	Remapped	Perfect	NC_000019.9:g.5368 9170_53691951delNC _000019.9:g.536891 70_53691951del	GRCh37.p13	First Pass	NC_000019.9	Chr19	53,689,170	53,691,951
nssv14812616	Remapped	Perfect	NC_000019.9:g.5368 9170_53691951delNC _000019.9:g.536891 70_53691951del	GRCh37.p13	First Pass	NC_000019.9	Chr19	53,689,170	53,691,951
nssv14812806	Remapped	Perfect	NC_000019.9:g.5368 9170_53691951delNC _000019.9:g.536891 70_53691951del	GRCh37.p13	First Pass	NC_000019.9	Chr19	53,689,170	53,691,951
nssv14813021	Remapped	Perfect	NC_000019.9:g.5368 9170_53691951delNC _000019.9:g.536891 70_53691951del	GRCh37.p13	First Pass	NC_000019.9	Chr19	53,689,170	53,691,951
nssv14813224	Remapped	Perfect	NC_000019.9:g.5368 9170_53691951delNC _000019.9:g.536891 70_53691951del	GRCh37.p13	First Pass	NC_000019.9	Chr19	53,689,170	53,691,951
nssv14813437	Remapped	Perfect	NC_000019.9:g.5368 9170_53691951delNC _000019.9:g.536891 70_53691951del	GRCh37.p13	First Pass	NC_000019.9	Chr19	53,689,170	53,691,951
nssv14813643	Remapped	Perfect	NC_000019.9:g.5368 9170_53691951delNC _000019.9:g.536891 70_53691951del	GRCh37.p13	First Pass	NC_000019.9	Chr19	53,689,170	53,691,951
nssv14813879	Remapped	Perfect	NC_000019.9:g.5368 9170_53691951delNC _000019.9:g.536891 70_53691951del	GRCh37.p13	First Pass	NC_000019.9	Chr19	53,689,170	53,691,951
nssv14814054	Remapped	Perfect	NC_000019.9:g.5368 9170_53691951delNC _000019.9:g.536891 70_53691951del	GRCh37.p13	First Pass	NC_000019.9	Chr19	53,689,170	53,691,951
nssv14814223	Remapped	Perfect	NC_000019.9:g.5368 9170_53691951delNC _000019.9:g.536891 70_53691951del	GRCh37.p13	First Pass	NC_000019.9	Chr19	53,689,170	53,691,951
nssv14814457	Remapped	Perfect	NC_000019.9:g.5368 9170_53691951delNC _000019.9:g.536891 70_53691951del	GRCh37.p13	First Pass	NC_000019.9	Chr19	53,689,170	53,691,951
nssv14814709	Remapped	Perfect	NC_000019.9:g.5368 9170_53691951delNC _000019.9:g.536891 70_53691951del	GRCh37.p13	First Pass	NC_000019.9	Chr19	53,689,170	53,691,951

Showing 28 of 42

dbVar

Database of genomic structural variation

nsv3374933

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Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

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