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

dbVar

Database of genomic structural variation

nsv6716253

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:9,100

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: 138 SVs from 39 studies. See in: genome view

Submitted genomic45,501,401-45,510,500

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6716253	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	45,501,401	45,510,500
nsv6716253	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	45,542,893	45,551,992

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18484304	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
nssv18484304	Submitted genomic		NC_000003.12:g.455 01401_45510500del	GRCh38 (hg38)		NC_000003.12	Chr3	45,501,401	45,510,500
nssv18484304	Remapped	Perfect	NC_000003.11:g.455 42893_45551992del	GRCh37.p13	First Pass	NC_000003.11	Chr3	45,542,893	45,551,992

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)
nssv18484304	0.007	1697	253110

You are here: NCBI