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

dbVar

Database of genomic structural variation

nsv6363355

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:6,411

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: 111 SVs from 35 studies. See in: genome view

Submitted genomic52,536,290-52,542,700

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6363355	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	52,536,290	52,542,700
nsv6363355	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	52,570,306	52,576,716

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18209990	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18209990	Submitted genomic		NC_000003.12:g.525 36290_52542700dup	GRCh38 (hg38)		NC_000003.12	Chr3	52,536,290	52,542,700
nssv18209990	Remapped	Perfect	NC_000003.11:g.525 70306_52576716dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	52,570,306	52,576,716

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)
nssv18209990	<0.001	2	39246

You are here: NCBI