nsv3353946

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:2,925

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

Submitted genomic68,133,665-68,136,589

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3353946	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000015.10	Chr15	68,133,665	68,136,589
nsv3353946	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	68,426,003	68,428,927

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14812077	sva deletion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134
nssv14812229	sva deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14812401	sva deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14812595	sva deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14812789	sva deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14813000	sva deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14813207	sva deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14813419	sva deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14813611	sva deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14813863	sva deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14814042	sva deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14814204	sva deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563
nssv14814428	sva deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14814685	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
nssv14812077	Submitted genomic		NC_000015.10:g.681 33665_68136589del	GRCh38 (hg38)		NC_000015.10	Chr15	68,133,665	68,136,589
nssv14812229	Submitted genomic		NC_000015.10:g.681 33665_68136589del	GRCh38 (hg38)		NC_000015.10	Chr15	68,133,665	68,136,589
nssv14812401	Submitted genomic		NC_000015.10:g.681 33665_68136589del	GRCh38 (hg38)		NC_000015.10	Chr15	68,133,665	68,136,589
nssv14812595	Submitted genomic		NC_000015.10:g.681 33665_68136589del	GRCh38 (hg38)		NC_000015.10	Chr15	68,133,665	68,136,589
nssv14812789	Submitted genomic		NC_000015.10:g.681 33665_68136589del	GRCh38 (hg38)		NC_000015.10	Chr15	68,133,665	68,136,589
nssv14813000	Submitted genomic		NC_000015.10:g.681 33665_68136589del	GRCh38 (hg38)		NC_000015.10	Chr15	68,133,665	68,136,589
nssv14813207	Submitted genomic		NC_000015.10:g.681 33665_68136589del	GRCh38 (hg38)		NC_000015.10	Chr15	68,133,665	68,136,589
nssv14813419	Submitted genomic		NC_000015.10:g.681 33665_68136589del	GRCh38 (hg38)		NC_000015.10	Chr15	68,133,665	68,136,589
nssv14813611	Submitted genomic		NC_000015.10:g.681 33665_68136589del	GRCh38 (hg38)		NC_000015.10	Chr15	68,133,665	68,136,589
nssv14813863	Submitted genomic		NC_000015.10:g.681 33665_68136589del	GRCh38 (hg38)		NC_000015.10	Chr15	68,133,665	68,136,589
nssv14814042	Submitted genomic		NC_000015.10:g.681 33665_68136589del	GRCh38 (hg38)		NC_000015.10	Chr15	68,133,665	68,136,589
nssv14814204	Submitted genomic		NC_000015.10:g.681 33665_68136589del	GRCh38 (hg38)		NC_000015.10	Chr15	68,133,665	68,136,589
nssv14814428	Submitted genomic		NC_000015.10:g.681 33665_68136589del	GRCh38 (hg38)		NC_000015.10	Chr15	68,133,665	68,136,589
nssv14814685	Submitted genomic		NC_000015.10:g.681 33665_68136589del	GRCh38 (hg38)		NC_000015.10	Chr15	68,133,665	68,136,589
nssv14812077	Remapped	Perfect	NC_000015.9:g.6842 6003_68428927delNC _000015.9:g.684260 03_68428927del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,426,003	68,428,927
nssv14812229	Remapped	Perfect	NC_000015.9:g.6842 6003_68428927delNC _000015.9:g.684260 03_68428927del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,426,003	68,428,927
nssv14812401	Remapped	Perfect	NC_000015.9:g.6842 6003_68428927delNC _000015.9:g.684260 03_68428927del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,426,003	68,428,927
nssv14812595	Remapped	Perfect	NC_000015.9:g.6842 6003_68428927delNC _000015.9:g.684260 03_68428927del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,426,003	68,428,927
nssv14812789	Remapped	Perfect	NC_000015.9:g.6842 6003_68428927delNC _000015.9:g.684260 03_68428927del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,426,003	68,428,927
nssv14813000	Remapped	Perfect	NC_000015.9:g.6842 6003_68428927delNC _000015.9:g.684260 03_68428927del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,426,003	68,428,927
nssv14813207	Remapped	Perfect	NC_000015.9:g.6842 6003_68428927delNC _000015.9:g.684260 03_68428927del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,426,003	68,428,927
nssv14813419	Remapped	Perfect	NC_000015.9:g.6842 6003_68428927delNC _000015.9:g.684260 03_68428927del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,426,003	68,428,927
nssv14813611	Remapped	Perfect	NC_000015.9:g.6842 6003_68428927delNC _000015.9:g.684260 03_68428927del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,426,003	68,428,927
nssv14813863	Remapped	Perfect	NC_000015.9:g.6842 6003_68428927delNC _000015.9:g.684260 03_68428927del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,426,003	68,428,927
nssv14814042	Remapped	Perfect	NC_000015.9:g.6842 6003_68428927delNC _000015.9:g.684260 03_68428927del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,426,003	68,428,927
nssv14814204	Remapped	Perfect	NC_000015.9:g.6842 6003_68428927delNC _000015.9:g.684260 03_68428927del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,426,003	68,428,927
nssv14814428	Remapped	Perfect	NC_000015.9:g.6842 6003_68428927delNC _000015.9:g.684260 03_68428927del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,426,003	68,428,927
nssv14814685	Remapped	Perfect	NC_000015.9:g.6842 6003_68428927delNC _000015.9:g.684260 03_68428927del	GRCh37.p13	First Pass	NC_000015.9	Chr15	68,426,003	68,428,927

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dbVar

Database of genomic structural variation

nsv3353946

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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