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dbVar

Database of genomic structural variation

nsv6686597

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:5,565

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: 131 SVs from 34 studies. See in: genome view

Submitted genomic102,314,856-102,320,420

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6686597	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	102,314,856	102,320,420
nsv6686597	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	102,931,316	102,936,880

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18439916	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18439916	Submitted genomic		NC_000002.12:g.102 314856_102320420de l	GRCh38 (hg38)		NC_000002.12	Chr2	102,314,856	102,320,420
nssv18439916	Remapped	Perfect	NC_000002.11:g.102 931316_102936880de l	GRCh37.p13	First Pass	NC_000002.11	Chr2	102,931,316	102,936,880

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)
nssv18439916	0.001	115	275694

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