A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557471



Internal ID15998194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10428209..10444437hg38UCSC Ensembl
Innerchr12:10580808..10597036hg19UCSC Ensembl
Innerchr12:10472075..10488303hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3816229
hg1916229
hg1816229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2360n54
Supporting Variantsnssv788034, nssv788036, nssv788035, nssv788037
Samples
Known GenesKLRC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557471
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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