A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv789873



Internal ID15737143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:26450653..26485024hg38UCSC Ensembl
Innerchr12:26603586..26637957hg19UCSC Ensembl
Innerchr12:26494853..26529224hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3834372
hg1934372
hg1834372
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557803
Supporting Variants
Samples
Known GenesITPR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv789873
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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