A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv928435



Internal ID16222391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:191838120..192003002hg38UCSC Ensembl
Innerchr2:192702846..192867728hg19UCSC Ensembl
Innerchr2:192411091..192575973hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38164883
hg19164883
hg18164883
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584068
Supporting Variants
Samples
Known GenesSDPR, TMEFF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv928435
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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