A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3524832



Internal ID18476427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:96237097..96338527hg38UCSC Ensembl
Innerchr12:96630875..96732305hg19UCSC Ensembl
Innerchr12:95155006..95256436hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38101431
hg19101431
hg18101431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1035411
Supporting Variants
Samples
Known GenesCDK17, ELK3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3524832
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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