A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050912



Internal ID18793443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:262244..292982hg38UCSC Ensembl
Innerchr12:371410..402148hg19UCSC Ensembl
Innerchr12:241671..272409hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3830739
hg1930739
hg1830739
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3517440
Samples
Known GenesKDM5A, SLC6A13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050912
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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