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dbVar

Database of genomic structural variation

nsv6668858

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:61,800

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: 323 SVs from 66 studies. See in: genome view

Submitted genomic73,625,701-73,687,500

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6668858	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	73,625,701	73,687,500
nsv6668858	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	73,852,828	73,914,627

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18468455	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
nssv18468455	Submitted genomic		NC_000002.12:g.736 25701_73687500del	GRCh38 (hg38)		NC_000002.12	Chr2	73,625,701	73,687,500
nssv18468455	Remapped	Perfect	NC_000002.11:g.738 52828_73914627del	GRCh37.p13	First Pass	NC_000002.11	Chr2	73,852,828	73,914,627

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)
nssv18468455	0.002	453	259704

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