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

dbVar

Database of genomic structural variation

nsv6534859

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:1,032

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: 137 SVs from 25 studies. See in: genome view

Submitted genomic12,971,948-12,972,979

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6534859	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	12,971,948	12,972,979
nsv6534859	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	13,082,762	13,083,793

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18197362	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18197362	Submitted genomic		NC_000019.10:g.129 71948_12972979dup	GRCh38 (hg38)		NC_000019.10	Chr19	12,971,948	12,972,979
nssv18197362	Remapped	Perfect	NC_000019.9:g.1308 2762_13083793dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	13,082,762	13,083,793

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)
nssv18197362	<0.001	4	38502

You are here: NCBI