A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv803399



Internal ID15750669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120756762..120914403hg38UCSC Ensembl
Innerchr12:121194565..121352206hg19UCSC Ensembl
Innerchr12:119678948..119836589hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38157642
hg19157642
hg18157642
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560438
Supporting Variants
Samples
Known GenesSPPL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv803399
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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