A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv803898



Internal ID15751168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124496040..124781090hg38UCSC Ensembl
Innerchr12:124980586..125265636hg19UCSC Ensembl
Innerchr12:123546539..123831589hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38285051
hg19285051
hg18285051
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560543
Supporting Variants
Samples
Known GenesNCOR2, SCARB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv803898
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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