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

dbVar

Database of genomic structural variation

nsv6891429

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:4,116,928

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: 13043 SVs from 117 studies. See in: genome view

Submitted genomic3,284,212-7,401,139

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6891429	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	3,284,212	7,401,139
nsv6891429	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	3,326,404	7,443,101

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18335379	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
nssv18335379	Submitted genomic		NC_000010.11:g.328 4212_7401139del	GRCh38 (hg38)		NC_000010.11	Chr10	3,284,212	7,401,139
nssv18335379	Remapped	Good	NC_000010.10:g.332 6404_7443101del	GRCh37.p13	First Pass	NC_000010.10	Chr10	3,326,404	7,443,101

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)
nssv18335379	4e-06	1	276132

You are here: NCBI