nsv3382659

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:6,125

Description:Absence of a L1 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: 240 SVs from 60 studies. See in: genome view

Submitted genomic90,675,617-90,681,741

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3382659	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	90,675,617	90,681,741
nsv3382659	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	91,596,768	91,602,892

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14774631	line1 deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563
nssv14775135	line1 deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14776034	line1 deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14776556	line1 deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14778489	line1 deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14782185	line1 deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14782660	line1 deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14782813	line1 deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14783267	line1 deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14784384	line1 deletion	SAMN06885952	Sequencing	de novo and local sequence assembly	28,070
nssv14785766	line1 deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14786306	line1 deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14787423	line1 deletion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134
nssv14789998	line1 deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14774631	Submitted genomic		NC_000004.12:g.906 75617_90681741del	GRCh38 (hg38)		NC_000004.12	Chr4	90,675,617	90,681,741
nssv14775135	Submitted genomic		NC_000004.12:g.906 75617_90681741del	GRCh38 (hg38)		NC_000004.12	Chr4	90,675,617	90,681,741
nssv14776034	Submitted genomic		NC_000004.12:g.906 75617_90681741del	GRCh38 (hg38)		NC_000004.12	Chr4	90,675,617	90,681,741
nssv14776556	Submitted genomic		NC_000004.12:g.906 75617_90681741del	GRCh38 (hg38)		NC_000004.12	Chr4	90,675,617	90,681,741
nssv14778489	Submitted genomic		NC_000004.12:g.906 75617_90681741del	GRCh38 (hg38)		NC_000004.12	Chr4	90,675,617	90,681,741
nssv14782185	Submitted genomic		NC_000004.12:g.906 75617_90681741del	GRCh38 (hg38)		NC_000004.12	Chr4	90,675,617	90,681,741
nssv14782660	Submitted genomic		NC_000004.12:g.906 75617_90681741del	GRCh38 (hg38)		NC_000004.12	Chr4	90,675,617	90,681,741
nssv14782813	Submitted genomic		NC_000004.12:g.906 75617_90681741del	GRCh38 (hg38)		NC_000004.12	Chr4	90,675,617	90,681,741
nssv14783267	Submitted genomic		NC_000004.12:g.906 75617_90681741del	GRCh38 (hg38)		NC_000004.12	Chr4	90,675,617	90,681,741
nssv14784384	Submitted genomic		NC_000004.12:g.906 75617_90681741del	GRCh38 (hg38)		NC_000004.12	Chr4	90,675,617	90,681,741
nssv14785766	Submitted genomic		NC_000004.12:g.906 75617_90681741del	GRCh38 (hg38)		NC_000004.12	Chr4	90,675,617	90,681,741
nssv14786306	Submitted genomic		NC_000004.12:g.906 75617_90681741del	GRCh38 (hg38)		NC_000004.12	Chr4	90,675,617	90,681,741
nssv14787423	Submitted genomic		NC_000004.12:g.906 75617_90681741del	GRCh38 (hg38)		NC_000004.12	Chr4	90,675,617	90,681,741
nssv14789998	Submitted genomic		NC_000004.12:g.906 75617_90681741del	GRCh38 (hg38)		NC_000004.12	Chr4	90,675,617	90,681,741
nssv14774631	Remapped	Perfect	NC_000004.11:g.915 96768_91602892delN C_000004.11:g.9159 6768_91602892del	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,596,768	91,602,892
nssv14775135	Remapped	Perfect	NC_000004.11:g.915 96768_91602892delN C_000004.11:g.9159 6768_91602892del	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,596,768	91,602,892
nssv14776034	Remapped	Perfect	NC_000004.11:g.915 96768_91602892delN C_000004.11:g.9159 6768_91602892del	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,596,768	91,602,892
nssv14776556	Remapped	Perfect	NC_000004.11:g.915 96768_91602892delN C_000004.11:g.9159 6768_91602892del	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,596,768	91,602,892
nssv14778489	Remapped	Perfect	NC_000004.11:g.915 96768_91602892delN C_000004.11:g.9159 6768_91602892del	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,596,768	91,602,892
nssv14782185	Remapped	Perfect	NC_000004.11:g.915 96768_91602892delN C_000004.11:g.9159 6768_91602892del	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,596,768	91,602,892
nssv14782660	Remapped	Perfect	NC_000004.11:g.915 96768_91602892delN C_000004.11:g.9159 6768_91602892del	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,596,768	91,602,892
nssv14782813	Remapped	Perfect	NC_000004.11:g.915 96768_91602892delN C_000004.11:g.9159 6768_91602892del	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,596,768	91,602,892
nssv14783267	Remapped	Perfect	NC_000004.11:g.915 96768_91602892delN C_000004.11:g.9159 6768_91602892del	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,596,768	91,602,892
nssv14784384	Remapped	Perfect	NC_000004.11:g.915 96768_91602892delN C_000004.11:g.9159 6768_91602892del	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,596,768	91,602,892
nssv14785766	Remapped	Perfect	NC_000004.11:g.915 96768_91602892delN C_000004.11:g.9159 6768_91602892del	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,596,768	91,602,892
nssv14786306	Remapped	Perfect	NC_000004.11:g.915 96768_91602892delN C_000004.11:g.9159 6768_91602892del	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,596,768	91,602,892
nssv14787423	Remapped	Perfect	NC_000004.11:g.915 96768_91602892delN C_000004.11:g.9159 6768_91602892del	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,596,768	91,602,892
nssv14789998	Remapped	Perfect	NC_000004.11:g.915 96768_91602892delN C_000004.11:g.9159 6768_91602892del	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,596,768	91,602,892

Showing 28 of 42

dbVar

Database of genomic structural variation

nsv3382659

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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