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dbVar

Database of genomic structural variation

nsv5456315

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:125

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: 88 SVs from 22 studies. See in: genome view

Submitted genomic40,768,082-40,768,206

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5456315	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	40,768,082	40,768,206
nsv5456315	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	40,768,184	40,768,308

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16964491	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16964491	Submitted genomic		NC_000005.10:g.407 68082_40768206dup	GRCh38 (hg38)		NC_000005.10	Chr5	40,768,082	40,768,206
nssv16964491	Remapped	Perfect	NC_000005.9:g.4076 8184_40768308dup	GRCh37.p13	First Pass	NC_000005.9	Chr5	40,768,184	40,768,308

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)
nssv16964491	0.007	46	6404

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