A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626132



Internal ID15849665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240923534..240924916hg38UCSC Ensembl
Outerchr2:240921494..240933305hg38UCSC Ensembl
Innerchr2:241862951..241864333hg19UCSC Ensembl
Outerchr2:241860911..241872722hg19UCSC Ensembl
Innerchr2:241511624..241513006hg18UCSC Ensembl
Outerchr2:241509584..241521395hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3811812
hg1911812
hg1811812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511162
Supporting Variants
Samples1
Known Genes
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv626132
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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