A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041247



Internal ID19130466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70862900..70891998hg38UCSC Ensembl
Innerchr12:71256680..71285778hg19UCSC Ensembl
Innerchr12:69542947..69572045hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3829099
hg1929099
hg1829099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524610
Samples
Known GenesPTPRR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041247
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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