A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051702



Internal ID19140921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74280953..74338289hg38UCSC Ensembl
Innerchr12:74674733..74732069hg19UCSC Ensembl
Innerchr12:72961000..73018336hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3857337
hg1957337
hg1857337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524637
Samples
Known GenesLOC100507377
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051702
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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