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dbVar

Database of genomic structural variation

nsv6531565

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:345,932

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: 860 SVs from 67 studies. See in: genome view

Submitted genomic51,768,552-52,114,483

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6531565	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	51,768,552	52,114,483
nsv6531565	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	52,271,805	52,617,736

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18198317	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18198317	Submitted genomic		NC_000019.10:g.517 68552_52114483dup	GRCh38 (hg38)		NC_000019.10	Chr19	51,768,552	52,114,483
nssv18198317	Remapped	Perfect	NC_000019.9:g.5227 1805_52617736dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	52,271,805	52,617,736

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)
nssv18198317	<0.001	28	39288

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