Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6719514

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:99,200

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: 894 SVs from 79 studies. See in: genome view

Submitted genomic195,559,701-195,658,900

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6719514	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	195,559,701	195,658,900
nsv6719514	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	195,286,544	195,385,771

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18677375	duplication	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
nssv18677375	Submitted genomic		NC_000003.12:g.195 559701_195658900du p	GRCh38 (hg38)		NC_000003.12	Chr3	195,559,701	195,658,900
nssv18677375	Remapped	Good	NC_000003.11:g.195 286544_195385771du p	GRCh37.p13	First Pass	NC_000003.11	Chr3	195,286,544	195,385,771

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)
nssv18677375	3.5e-05	6	166528

You are here: NCBI