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

dbVar

Database of genomic structural variation

nsv6740374

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:203,425

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: 449 SVs from 48 studies. See in: genome view

Submitted genomic84,793,845-84,997,269

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6740374	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	84,793,845	84,997,269
nsv6740374	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	85,714,998	85,918,422

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18691096	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
nssv18691096	Submitted genomic		NC_000004.12:g.847 93845_84997269dup	GRCh38 (hg38)		NC_000004.12	Chr4	84,793,845	84,997,269
nssv18691096	Remapped	Perfect	NC_000004.11:g.857 14998_85918422dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	85,714,998	85,918,422

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)
nssv18691096	1.1e-05	3	275010

You are here: NCBI