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

dbVar

Database of genomic structural variation

nsv7092355

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:7,700

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: 235 SVs from 22 studies. See in: genome view

Submitted genomic64,938,401-64,946,100

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7092355	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	64,938,401	64,946,100
nsv7092355	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	64,158,281	64,165,980

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18657160	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
nssv18657160	Submitted genomic		NC_000023.11:g.649 38401_64946100dup	GRCh38 (hg38)		NC_000023.11	ChrX	64,938,401	64,946,100
nssv18657160	Remapped	Perfect	NC_000023.10:g.641 58281_64165980dup	GRCh37.p13	First Pass	NC_000023.10	ChrX	64,158,281	64,165,980

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)
nssv18657160	0.001	250	216638

You are here: NCBI