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dbVar

Database of genomic structural variation

nsv6472007

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:3,527

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

Submitted genomic66,534,187-66,537,713

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6472007	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	66,534,187	66,537,713
nsv6472007	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	66,301,658	66,305,184

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18196421	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18196421	Submitted genomic		NC_000011.10:g.665 34187_66537713dup	GRCh38 (hg38)		NC_000011.10	Chr11	66,534,187	66,537,713
nssv18196421	Remapped	Perfect	NC_000011.9:g.6630 1658_66305184dup	GRCh37.p13	First Pass	NC_000011.9	Chr11	66,301,658	66,305,184

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18196421	<0.001	1	39208

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