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

dbVar

Database of genomic structural variation

nsv6941647

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:2,169,907

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: 5082 SVs from 97 studies. See in: genome view

Submitted genomic53,551,791-55,721,697

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6941647	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	53,551,791	55,721,697
nsv6941647	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	54,018,509	56,188,415

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18387489	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
nssv18387489	Submitted genomic		NC_000014.9:g.5355 1791_55721697del	GRCh38 (hg38)		NC_000014.9	Chr14	53,551,791	55,721,697
nssv18387489	Remapped	Perfect	NC_000014.8:g.5401 8509_56188415del	GRCh37.p13	First Pass	NC_000014.8	Chr14	54,018,509	56,188,415

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)
nssv18387489	4e-06	1	276132

You are here: NCBI