A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175446



Internal ID15533340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22465671..22513597hg38UCSC Ensembl
Innerchr12:22618605..22666531hg19UCSC Ensembl
Innerchr12:22509872..22557798hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3847927
hg1947927
hg1847927
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557756
Supporting Variants
SamplesNINDS_145
Known GenesC2CD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175446
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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