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dbVar

Database of genomic structural variation

nsv6994054

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:5,371

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: 118 SVs from 24 studies. See in: genome view

Submitted genomic69,342,155-69,347,525

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6994054	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	69,342,155	69,347,525
nsv6994054	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	69,376,058	69,381,428

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18404314	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
nssv18404314	Submitted genomic		NC_000016.10:g.693 42155_69347525del	GRCh38 (hg38)		NC_000016.10	Chr16	69,342,155	69,347,525
nssv18404314	Remapped	Perfect	NC_000016.9:g.6937 6058_69381428del	GRCh37.p13	First Pass	NC_000016.9	Chr16	69,376,058	69,381,428

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)
nssv18404314	1.4e-05	4	276192

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