A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1539n100



Internal ID20153155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:85792109..85878715hg38UCSC Ensembl
chr12:86185887..86272493hg19UCSC Ensembl
chr12:84710018..84796624hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3886607
hg1986607
hg1886607
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1049443, nsv1036914
Samples
Known GenesNTS, RASSF9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1539n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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