A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173746



Internal ID15509130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12811189..12852235hg38UCSC Ensembl
Innerchr1:12871327..12912088hg19UCSC Ensembl
Innerchr1:12793914..12834675hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3841047
hg1940762
hg1840762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545491
Supporting Variants
Samples1787431167_A
Known GenesHNRNPCL1, LOC649330, PRAMEF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173746
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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