nsv3351923

Organism: Homo sapiens

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

Variant Calls:11
Validation:Not tested
Clinical Assertions: No
Region Size:3,154

Description:Absence of a SVA 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: 163 SVs from 51 studies. See in: genome view

Submitted genomic64,893,669-64,896,822

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3351923	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	64,893,669	64,896,822
nsv3351923	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	65,360,387	65,363,540

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14812073	sva deletion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134
nssv14812224	sva deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14812396	sva deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14812587	sva deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14812784	sva deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14812993	sva deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14813201	sva deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14813412	sva deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14813859	sva deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14814033	sva deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14814198	sva deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14812073	Submitted genomic		NC_000014.9:g.6489 3669_64896822del	GRCh38 (hg38)		NC_000014.9	Chr14	64,893,669	64,896,822
nssv14812224	Submitted genomic		NC_000014.9:g.6489 3669_64896822del	GRCh38 (hg38)		NC_000014.9	Chr14	64,893,669	64,896,822
nssv14812396	Submitted genomic		NC_000014.9:g.6489 3669_64896822del	GRCh38 (hg38)		NC_000014.9	Chr14	64,893,669	64,896,822
nssv14812587	Submitted genomic		NC_000014.9:g.6489 3669_64896822del	GRCh38 (hg38)		NC_000014.9	Chr14	64,893,669	64,896,822
nssv14812784	Submitted genomic		NC_000014.9:g.6489 3669_64896822del	GRCh38 (hg38)		NC_000014.9	Chr14	64,893,669	64,896,822
nssv14812993	Submitted genomic		NC_000014.9:g.6489 3669_64896822del	GRCh38 (hg38)		NC_000014.9	Chr14	64,893,669	64,896,822
nssv14813201	Submitted genomic		NC_000014.9:g.6489 3669_64896822del	GRCh38 (hg38)		NC_000014.9	Chr14	64,893,669	64,896,822
nssv14813412	Submitted genomic		NC_000014.9:g.6489 3669_64896822del	GRCh38 (hg38)		NC_000014.9	Chr14	64,893,669	64,896,822
nssv14813859	Submitted genomic		NC_000014.9:g.6489 3669_64896822del	GRCh38 (hg38)		NC_000014.9	Chr14	64,893,669	64,896,822
nssv14814033	Submitted genomic		NC_000014.9:g.6489 3669_64896822del	GRCh38 (hg38)		NC_000014.9	Chr14	64,893,669	64,896,822
nssv14814198	Submitted genomic		NC_000014.9:g.6489 3669_64896822del	GRCh38 (hg38)		NC_000014.9	Chr14	64,893,669	64,896,822
nssv14812073	Remapped	Perfect	NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del	GRCh37.p13	First Pass	NC_000014.8	Chr14	65,360,387	65,363,540
nssv14812224	Remapped	Perfect	NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del	GRCh37.p13	First Pass	NC_000014.8	Chr14	65,360,387	65,363,540
nssv14812396	Remapped	Perfect	NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del	GRCh37.p13	First Pass	NC_000014.8	Chr14	65,360,387	65,363,540
nssv14812587	Remapped	Perfect	NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del	GRCh37.p13	First Pass	NC_000014.8	Chr14	65,360,387	65,363,540
nssv14812784	Remapped	Perfect	NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del	GRCh37.p13	First Pass	NC_000014.8	Chr14	65,360,387	65,363,540
nssv14812993	Remapped	Perfect	NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del	GRCh37.p13	First Pass	NC_000014.8	Chr14	65,360,387	65,363,540
nssv14813201	Remapped	Perfect	NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del	GRCh37.p13	First Pass	NC_000014.8	Chr14	65,360,387	65,363,540
nssv14813412	Remapped	Perfect	NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del	GRCh37.p13	First Pass	NC_000014.8	Chr14	65,360,387	65,363,540
nssv14813859	Remapped	Perfect	NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del	GRCh37.p13	First Pass	NC_000014.8	Chr14	65,360,387	65,363,540
nssv14814033	Remapped	Perfect	NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del	GRCh37.p13	First Pass	NC_000014.8	Chr14	65,360,387	65,363,540
nssv14814198	Remapped	Perfect	NC_000014.8:g.6536 0387_65363540delNC _000014.8:g.653603 87_65363540del	GRCh37.p13	First Pass	NC_000014.8	Chr14	65,360,387	65,363,540

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dbVar

Database of genomic structural variation

nsv3351923

Links to Other Resources

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