A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593989



Internal ID16034712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:37936897..38005065hg38UCSC Ensembl
Innerchr4:37938518..38006686hg19UCSC Ensembl
Innerchr4:37614913..37683081hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3868169
hg1968169
hg1868169
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv995865
Samples
Known GenesPTTG2, TBC1D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593989
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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