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dbVar

Database of genomic structural variation

nsv6649708

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:339

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: 132 SVs from 25 studies. See in: genome view

Submitted genomic43,600,416-43,600,754

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6649708	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	43,600,416	43,600,754
nsv6649708	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	44,066,087	44,066,425

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18390658	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
nssv18390658	Submitted genomic		NC_000001.11:g.436 00416_43600754del	GRCh38 (hg38)		NC_000001.11	Chr1	43,600,416	43,600,754
nssv18390658	Remapped	Perfect	NC_000001.10:g.440 66087_44066425del	GRCh37.p13	First Pass	NC_000001.10	Chr1	44,066,087	44,066,425

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)
nssv18390658	0.006	1392	234410

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