A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1549n100



Internal ID20153165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99576473..99758416hg38UCSC Ensembl
chr12:99970251..100152194hg19UCSC Ensembl
chr12:98494382..98676325hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38181944
hg19181944
hg18181944
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1037721, nsv1040751
Samples
Known GenesANKS1B, FAM71C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1549n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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