A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043603



Internal ID18786134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:65487421..66772963hg38UCSC Ensembl
Innerchr13:66061553..67347095hg19UCSC Ensembl
Innerchr13:64959554..66245096hg18UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg381285543
hg191285543
hg181285543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3711833
Samples
Known GenesMIR4704, MIR548X2, PCDH9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043603
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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