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dbVar

Database of genomic structural variation

nsv5466639

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:602

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: 124 SVs from 32 studies. See in: genome view

Submitted genomic44,044,675-44,045,276

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5466639	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	44,044,675	44,045,276
nsv5466639	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	44,012,412	44,013,013

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16984739	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16984739	Submitted genomic		NC_000006.12:g.440 44675_44045276dup	GRCh38 (hg38)		NC_000006.12	Chr6	44,044,675	44,045,276
nssv16984739	Remapped	Perfect	NC_000006.11:g.440 12412_44013013dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	44,012,412	44,013,013

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)
nssv16984739	0.68	4351	6404

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