A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150467



Internal ID15533947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110072078..110177146hg38UCSC Ensembl
Innerchr2:110829655..110934723hg19UCSC Ensembl
Innerchr2:110186944..110292012hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38105069
hg19105069
hg18105069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582658
Supporting Variants
SamplesNINDS_238
Known GenesMALL, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150467
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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