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dbVar

Database of genomic structural variation

nsv6730000

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:172

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

Submitted genomic55,445,105-55,445,276

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6730000	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	55,445,105	55,445,276
nsv6730000	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	56,311,272	56,311,443

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18497237	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
nssv18497237	Submitted genomic		NC_000004.12:g.554 45105_55445276del	GRCh38 (hg38)		NC_000004.12	Chr4	55,445,105	55,445,276
nssv18497237	Remapped	Perfect	NC_000004.11:g.563 11272_56311443del	GRCh37.p13	First Pass	NC_000004.11	Chr4	56,311,272	56,311,443

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)
nssv18497237	0.335	89258	263874

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