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dbVar

Database of genomic structural variation

nsv4714053

Organism: Homo sapiens

Study:nstd195 (Mwapagha et al. 2021)
Variant Type:tandem duplication
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2

Publication(s):Mwapagha 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 37 studies. See in: genome view

Remapped(Score: Perfect):23,127,992-23,127,993

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4714053	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	23,127,992	23,127,993
nsv4714053	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	23,129,615	23,129,616

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv16241395	tandem duplication	M478	Sequencing	Paired-end mapping	1	4,557

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16241395	Remapped	Perfect	NC_000004.12:g.231 27992_23127993dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	23,127,992	23,127,993
nssv16241395	Submitted genomic		NC_000004.11:g.231 29615_23129616dup	GRCh37 (hg19)		NC_000004.11	Chr4	23,129,615	23,129,616

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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