A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557342



Internal ID15998065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8446801..8621931hg38UCSC Ensembl
Innerchr12:8599397..8774527hg19UCSC Ensembl
Innerchr12:8490664..8665794hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38175131
hg19175131
hg18175131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv787435
Samples
Known GenesAICDA, CLEC4D, CLEC4E, CLEC6A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557342
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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