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dbVar

Database of genomic structural variation

nsv3343864

Organism: Homo sapiens

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

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:8,672

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: 307 SVs from 35 studies. See in: genome view

Submitted genomic12,141,473-12,150,144

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3343864	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	12,141,473	12,150,144
nsv3343864	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	12,141,472	12,150,143

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14593100	inversion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14595029	inversion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14599456	inversion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14600993	inversion	SAMN06885952	Sequencing	de novo and local sequence assembly	28,070
nssv14604826	inversion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14606773	inversion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134
nssv14608764	inversion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14608913	inversion	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
nssv14593100	Submitted genomic		NC_000018.10:g.121 41473_12150144inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,141,473	12,150,144
nssv14595029	Submitted genomic		NC_000018.10:g.121 41473_12150144inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,141,473	12,150,144
nssv14599456	Submitted genomic		NC_000018.10:g.121 41473_12150144inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,141,473	12,150,144
nssv14600993	Submitted genomic		NC_000018.10:g.121 41473_12150144inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,141,473	12,150,144
nssv14604826	Submitted genomic		NC_000018.10:g.121 41473_12150144inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,141,473	12,150,144
nssv14606773	Submitted genomic		NC_000018.10:g.121 41473_12150144inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,141,473	12,150,144
nssv14608764	Submitted genomic		NC_000018.10:g.121 41473_12150144inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,141,473	12,150,144
nssv14608913	Submitted genomic		NC_000018.10:g.121 41473_12150144inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,141,473	12,150,144
nssv14593100	Remapped	Perfect	NC_000018.9:g.1214 1472_12150143invNC _000018.9:g.121414 72_12150143inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,141,472	12,150,143
nssv14595029	Remapped	Perfect	NC_000018.9:g.1214 1472_12150143invNC _000018.9:g.121414 72_12150143inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,141,472	12,150,143
nssv14599456	Remapped	Perfect	NC_000018.9:g.1214 1472_12150143invNC _000018.9:g.121414 72_12150143inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,141,472	12,150,143
nssv14600993	Remapped	Perfect	NC_000018.9:g.1214 1472_12150143invNC _000018.9:g.121414 72_12150143inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,141,472	12,150,143
nssv14604826	Remapped	Perfect	NC_000018.9:g.1214 1472_12150143invNC _000018.9:g.121414 72_12150143inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,141,472	12,150,143
nssv14606773	Remapped	Perfect	NC_000018.9:g.1214 1472_12150143invNC _000018.9:g.121414 72_12150143inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,141,472	12,150,143
nssv14608764	Remapped	Perfect	NC_000018.9:g.1214 1472_12150143invNC _000018.9:g.121414 72_12150143inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,141,472	12,150,143
nssv14608913	Remapped	Perfect	NC_000018.9:g.1214 1472_12150143invNC _000018.9:g.121414 72_12150143inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,141,472	12,150,143

Showing 16 of 24

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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