A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557475



Internal ID15998198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10433481..10435597hg38UCSC Ensembl
Innerchr12:10586080..10588196hg19UCSC Ensembl
Innerchr12:10477347..10479463hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382117
hg192117
hg182117
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv788045, nssv788047, nssv788044, nssv788046, nssv788043
Samples
Known GenesKLRC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557475
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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