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dbVar

Database of genomic structural variation

nsv5466540

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:364

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: 119 SVs from 39 studies. See in: genome view

Submitted genomic40,794,513-40,794,876

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5466540	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	40,794,513	40,794,876
nsv5466540	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	40,794,615	40,794,978

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17735359	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17735359	Submitted genomic		NC_000005.10:g.407 94513_40794876del	GRCh38 (hg38)		NC_000005.10	Chr5	40,794,513	40,794,876
nssv17735359	Remapped	Perfect	NC_000005.9:g.4079 4615_40794978del	GRCh37.p13	First Pass	NC_000005.9	Chr5	40,794,615	40,794,978

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)
nssv17735359	0.343	2197	6404

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