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dbVar

Database of genomic structural variation

nsv5578993

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:50

Publication(s):Ebert et al. 2021

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: 171 SVs from 24 studies. See in: genome view

Submitted genomic174,163,707-174,163,756

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5578993	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	174,163,707	174,163,756
nsv5578993	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	175,028,435	175,028,484

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17110601	deletion	SAMN00007824	Sequencing	Sequence alignment	1,699

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17110601	Submitted genomic		NC_000002.12:g.174 163707_174163756de lA	GRCh38 (hg38)		NC_000002.12	Chr2	174,163,707	174,163,756
nssv17110601	Remapped	Perfect	NC_000002.11:g.175 028435_175028484de lA	GRCh37.p13	First Pass	NC_000002.11	Chr2	175,028,435	175,028,484

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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