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dbVar

Database of genomic structural variation

nsv6424753

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:1,544

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: 122 SVs from 27 studies. See in: genome view

Submitted genomic138,802,276-138,803,819

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6424753	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	138,802,276	138,803,819
nsv6424753	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	138,487,021	138,488,564

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18226894	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18226894	Submitted genomic		NC_000007.14:g.138 802276_138803819du p	GRCh38 (hg38)		NC_000007.14	Chr7	138,802,276	138,803,819
nssv18226894	Remapped	Perfect	NC_000007.13:g.138 487021_138488564du p	GRCh37.p13	First Pass	NC_000007.13	Chr7	138,487,021	138,488,564

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)
nssv18226894	<0.001	2	39224

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