A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584068



Internal ID16024791
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 StatusM
Merged Variants
Supporting Variantsnssv928435
Samples
Known GenesSDPR, TMEFF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584068
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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