A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173736



Internal ID15534557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12805784..12854043hg38UCSC Ensembl
Innerchr1:12865920..12913896hg19UCSC Ensembl
Innerchr1:12788507..12836483hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3848260
hg1947977
hg1847977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545480
Supporting Variants
SamplesNINDS_90
Known GenesHNRNPCL1, LOC649330, PRAMEF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173736
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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