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dbVar

Database of genomic structural variation

nsv3342959

Organism: Homo sapiens

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

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:969

Description:Absence of a Alu 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: 203 SVs from 50 studies. See in: genome view

Submitted genomic59,792,856-59,793,824

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3342959	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	59,792,856	59,793,824
nsv3342959	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	57,870,217	57,871,185

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14552353	alu deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14552600	alu deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14552947	alu deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14554398	alu deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14560731	alu deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14562287	alu deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14568745	alu deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14569649	alu deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14552353	Submitted genomic		NC_000017.11:g.597 92856_59793824del	GRCh38 (hg38)		NC_000017.11	Chr17	59,792,856	59,793,824
nssv14552600	Submitted genomic		NC_000017.11:g.597 92856_59793824del	GRCh38 (hg38)		NC_000017.11	Chr17	59,792,856	59,793,824
nssv14552947	Submitted genomic		NC_000017.11:g.597 92856_59793824del	GRCh38 (hg38)		NC_000017.11	Chr17	59,792,856	59,793,824
nssv14554398	Submitted genomic		NC_000017.11:g.597 92856_59793824del	GRCh38 (hg38)		NC_000017.11	Chr17	59,792,856	59,793,824
nssv14560731	Submitted genomic		NC_000017.11:g.597 92856_59793824del	GRCh38 (hg38)		NC_000017.11	Chr17	59,792,856	59,793,824
nssv14562287	Submitted genomic		NC_000017.11:g.597 92856_59793824del	GRCh38 (hg38)		NC_000017.11	Chr17	59,792,856	59,793,824
nssv14568745	Submitted genomic		NC_000017.11:g.597 92856_59793824del	GRCh38 (hg38)		NC_000017.11	Chr17	59,792,856	59,793,824
nssv14569649	Submitted genomic		NC_000017.11:g.597 92856_59793824del	GRCh38 (hg38)		NC_000017.11	Chr17	59,792,856	59,793,824
nssv14552353	Remapped	Perfect	NC_000017.10:g.578 70217_57871185delN C_000017.10:g.5787 0217_57871185del	GRCh37.p13	First Pass	NC_000017.10	Chr17	57,870,217	57,871,185
nssv14552600	Remapped	Perfect	NC_000017.10:g.578 70217_57871185delN C_000017.10:g.5787 0217_57871185del	GRCh37.p13	First Pass	NC_000017.10	Chr17	57,870,217	57,871,185
nssv14552947	Remapped	Perfect	NC_000017.10:g.578 70217_57871185delN C_000017.10:g.5787 0217_57871185del	GRCh37.p13	First Pass	NC_000017.10	Chr17	57,870,217	57,871,185
nssv14554398	Remapped	Perfect	NC_000017.10:g.578 70217_57871185delN C_000017.10:g.5787 0217_57871185del	GRCh37.p13	First Pass	NC_000017.10	Chr17	57,870,217	57,871,185
nssv14560731	Remapped	Perfect	NC_000017.10:g.578 70217_57871185delN C_000017.10:g.5787 0217_57871185del	GRCh37.p13	First Pass	NC_000017.10	Chr17	57,870,217	57,871,185
nssv14562287	Remapped	Perfect	NC_000017.10:g.578 70217_57871185delN C_000017.10:g.5787 0217_57871185del	GRCh37.p13	First Pass	NC_000017.10	Chr17	57,870,217	57,871,185
nssv14568745	Remapped	Perfect	NC_000017.10:g.578 70217_57871185delN C_000017.10:g.5787 0217_57871185del	GRCh37.p13	First Pass	NC_000017.10	Chr17	57,870,217	57,871,185
nssv14569649	Remapped	Perfect	NC_000017.10:g.578 70217_57871185delN C_000017.10:g.5787 0217_57871185del	GRCh37.p13	First Pass	NC_000017.10	Chr17	57,870,217	57,871,185

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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