A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3516271



Internal ID18467866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9876915..9970815hg38UCSC Ensembl
Innerchr12:10029514..10123414hg19UCSC Ensembl
Innerchr12:9920781..10014681hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3893901
hg1993901
hg1893901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1044587
Supporting Variants
Samples
Known GenesCLEC12A, CLEC2A, KLRF2, LOC102467076
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3516271
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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