A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593992



Internal ID16381401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:37991693..38009944hg38UCSC Ensembl
Innerchr4:37993314..38011565hg19UCSC Ensembl
Innerchr4:37669709..37687960hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3818252
hg1918252
hg1818252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9011n54
Supporting Variantsnssv1153457
SamplesNINDS_56
Known GenesTBC1D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593992
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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