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dbVar

Database of genomic structural variation

nsv5485612

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:234,938

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: 1418 SVs from 108 studies. See in: genome view

Submitted genomic6,871,746-7,106,683

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5485612	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	6,871,746	7,106,683
nsv5485612	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	6,729,268	6,964,205

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17006703	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17006703	Submitted genomic		NC_000008.11:g.687 1746_7106683dup	GRCh38 (hg38)		NC_000008.11	Chr8	6,871,746	7,106,683
nssv17006703	Remapped	Perfect	NC_000008.10:g.672 9268_6964205dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	6,729,268	6,964,205

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)
nssv17006703	0.002	11	6404

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