A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048816



Internal ID18791347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52811390..52861371hg38UCSC Ensembl
Innerchr12:53205174..53255155hg19UCSC Ensembl
Innerchr12:51491441..51541422hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3849982
hg1949982
hg1849982
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712488
Samples
Known GenesKRT4, KRT78, KRT79
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048816
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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