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dbVar

Database of genomic structural variation

nsv3373511

Organism: Homo sapiens

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

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:696

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: 164 SVs from 37 studies. See in: genome view

Submitted genomic332,460-333,155

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3373511	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	332,460	333,155
nsv3373511	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	332,460	333,155

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14552681	alu deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14556617	alu deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14558569	alu deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14558902	alu deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14563973	alu deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14565017	alu deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14568249	alu deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14569190	alu deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14569619	alu deletion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14552681	Submitted genomic		NC_000019.10:g.332 460_333155del	GRCh38 (hg38)		NC_000019.10	Chr19	332,460	333,155
nssv14556617	Submitted genomic		NC_000019.10:g.332 460_333155del	GRCh38 (hg38)		NC_000019.10	Chr19	332,460	333,155
nssv14558569	Submitted genomic		NC_000019.10:g.332 460_333155del	GRCh38 (hg38)		NC_000019.10	Chr19	332,460	333,155
nssv14558902	Submitted genomic		NC_000019.10:g.332 460_333155del	GRCh38 (hg38)		NC_000019.10	Chr19	332,460	333,155
nssv14563973	Submitted genomic		NC_000019.10:g.332 460_333155del	GRCh38 (hg38)		NC_000019.10	Chr19	332,460	333,155
nssv14565017	Submitted genomic		NC_000019.10:g.332 460_333155del	GRCh38 (hg38)		NC_000019.10	Chr19	332,460	333,155
nssv14568249	Submitted genomic		NC_000019.10:g.332 460_333155del	GRCh38 (hg38)		NC_000019.10	Chr19	332,460	333,155
nssv14569190	Submitted genomic		NC_000019.10:g.332 460_333155del	GRCh38 (hg38)		NC_000019.10	Chr19	332,460	333,155
nssv14569619	Submitted genomic		NC_000019.10:g.332 460_333155del	GRCh38 (hg38)		NC_000019.10	Chr19	332,460	333,155
nssv14552681	Remapped	Perfect	NC_000019.9:g.3324 60_333155delNC_000 019.9:g.332460_333 155del	GRCh37.p13	First Pass	NC_000019.9	Chr19	332,460	333,155
nssv14556617	Remapped	Perfect	NC_000019.9:g.3324 60_333155delNC_000 019.9:g.332460_333 155del	GRCh37.p13	First Pass	NC_000019.9	Chr19	332,460	333,155
nssv14558569	Remapped	Perfect	NC_000019.9:g.3324 60_333155delNC_000 019.9:g.332460_333 155del	GRCh37.p13	First Pass	NC_000019.9	Chr19	332,460	333,155
nssv14558902	Remapped	Perfect	NC_000019.9:g.3324 60_333155delNC_000 019.9:g.332460_333 155del	GRCh37.p13	First Pass	NC_000019.9	Chr19	332,460	333,155
nssv14563973	Remapped	Perfect	NC_000019.9:g.3324 60_333155delNC_000 019.9:g.332460_333 155del	GRCh37.p13	First Pass	NC_000019.9	Chr19	332,460	333,155
nssv14565017	Remapped	Perfect	NC_000019.9:g.3324 60_333155delNC_000 019.9:g.332460_333 155del	GRCh37.p13	First Pass	NC_000019.9	Chr19	332,460	333,155
nssv14568249	Remapped	Perfect	NC_000019.9:g.3324 60_333155delNC_000 019.9:g.332460_333 155del	GRCh37.p13	First Pass	NC_000019.9	Chr19	332,460	333,155
nssv14569190	Remapped	Perfect	NC_000019.9:g.3324 60_333155delNC_000 019.9:g.332460_333 155del	GRCh37.p13	First Pass	NC_000019.9	Chr19	332,460	333,155
nssv14569619	Remapped	Perfect	NC_000019.9:g.3324 60_333155delNC_000 019.9:g.332460_333 155del	GRCh37.p13	First Pass	NC_000019.9	Chr19	332,460	333,155

Showing 18 of 27

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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