A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002677



Internal ID19091894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:192278654..193209687hg38UCSC Ensembl
Innerchr2:193143380..194074413hg19UCSC Ensembl
Innerchr2:192851625..193782658hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38931034
hg19931034
hg18931034
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583897
Samples
Known GenesPCGEM1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002677
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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