A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557464



Internal ID15998187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10417572..10449091hg38UCSC Ensembl
Innerchr12:10570171..10601690hg19UCSC Ensembl
Innerchr12:10461438..10492957hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3831520
hg1931520
hg1831520
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2359n54
Supporting Variantsnssv788024
Samples
Known GenesKLRC1, KLRC2, KLRC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557464
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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