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

dbVar

Database of genomic structural variation

nsv6717338

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:3,937

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: 79 SVs from 19 studies. See in: genome view

Submitted genomic44,630,649-44,634,585

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6717338	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	44,630,649	44,634,585
nsv6717338	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	44,672,141	44,676,077

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18484243	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
nssv18484243	Submitted genomic		NC_000003.12:g.446 30649_44634585del	GRCh38 (hg38)		NC_000003.12	Chr3	44,630,649	44,634,585
nssv18484243	Remapped	Perfect	NC_000003.11:g.446 72141_44676077del	GRCh37.p13	First Pass	NC_000003.11	Chr3	44,672,141	44,676,077

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)
nssv18484243	4e-06	1	276208

You are here: NCBI