A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557469



Internal ID15998192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10420981..10446185hg38UCSC Ensembl
Innerchr12:10573580..10598784hg19UCSC Ensembl
Innerchr12:10464847..10490051hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3825205
hg1925205
hg1825205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2359n54
Supporting Variantsnssv788031
Samples
Known GenesKLRC1, KLRC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557469
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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