A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626099



Internal ID15849632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228399715..228403583hg38UCSC Ensembl
Outerchr2:228388209..228405109hg38UCSC Ensembl
Innerchr2:229264431..229268299hg19UCSC Ensembl
Outerchr2:229252925..229269825hg19UCSC Ensembl
Innerchr2:228972675..228976543hg18UCSC Ensembl
Outerchr2:228961169..228978069hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3816901
hg1916901
hg1816901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511159
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)nssv626099
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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