A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688018



Internal ID15077984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227858047..227916080hg38UCSC Ensembl
Innerchr1:228045748..228103781hg19UCSC Ensembl
Innerchr1:226112371..226170404hg18UCSC Ensembl
Innerchr1:224352483..224410516hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3858034
hg1958034
hg1858034
hg1758034
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516409
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688018
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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