A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv802831



Internal ID15750101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116277154..116278002hg38UCSC Ensembl
Innerchr12:116714959..116715807hg19UCSC Ensembl
Innerchr12:115199342..115200190hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38849
hg19849
hg18849
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560315
Supporting Variants
Samples
Known GenesMED13L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv802831
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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