A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173680



Internal ID15530541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12775725..12851347hg38UCSC Ensembl
Innerchr1:12835868..12911200hg19UCSC Ensembl
Innerchr1:12758455..12833787hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3875623
hg1975333
hg1875333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545451
Supporting Variants
SamplesHGDP00952
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173680
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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