A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050752



Internal ID19139971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:34282029..34701551hg38UCSC Ensembl
Innerchr12:34434964..34854486hg19UCSC Ensembl
Innerchr12:34326231..34745753hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38419523
hg19419523
hg18419523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1447n100
Supporting Variantsnssv3505597, nssv3510854, nssv3521761, nssv3511923, nssv3519861
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050752
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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