A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044587



Internal ID18787118
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 StatusM
Merged Variants
Supporting Variantsnssv3516271
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)nsv1044587
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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