A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv788045



Internal ID15735315
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 StatusS
Merged Variantsnsv557475
Supporting Variants
Samples
Known GenesKLRC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv788045
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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