A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557274



Internal ID15997997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7673709..7712380hg38UCSC Ensembl
Innerchr12:7826305..7864976hg19UCSC Ensembl
Innerchr12:7717572..7756243hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3838672
hg1938672
hg1838672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv787269
Samples
Known GenesDPPA3, GDF3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557274
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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