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dbVar

Database of genomic structural variation

nsv5487287

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:55,456

Publication(s):Byrska-Bishop et al. 2022

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: 294 SVs from 40 studies. See in: genome view

Submitted genomic27,303,949-27,359,404

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5487287	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	27,303,949	27,359,404
nsv5487287	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	27,161,466	27,216,921

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17010063	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17010063	Submitted genomic		NC_000008.11:g.273 03949_27359404dup	GRCh38 (hg38)		NC_000008.11	Chr8	27,303,949	27,359,404
nssv17010063	Remapped	Perfect	NC_000008.10:g.271 61466_27216921dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	27,161,466	27,216,921

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)
nssv17010063	<0.001	1	6404

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