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dbVar

Database of genomic structural variation

nsv6500831

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:806,321

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: 2441 SVs from 83 studies. See in: genome view

Submitted genomic10,669,159-11,475,479

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6500831	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	10,669,159	11,475,479
nsv6500831	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	10,763,016	11,569,335

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18177784	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18177784	Submitted genomic		NC_000016.10:g.106 69159_11475479dup	GRCh38 (hg38)		NC_000016.10	Chr16	10,669,159	11,475,479
nssv18177784	Remapped	Perfect	NC_000016.9:g.1076 3016_11569335dup	GRCh37.p13	First Pass	NC_000016.9	Chr16	10,763,016	11,569,335

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)
nssv18177784	<0.001	1	39262

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