A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4435n100



Internal ID20156051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44527151..44595409hg38UCSC Ensembl
chr21:45947034..46015300hg19UCSC Ensembl
chr21:44771462..44839728hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3868259
hg1968267
hg1868267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055170, nsv1055719
Samples
Known GenesKRTAP10-1, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, MIR7975, TSPEAR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4435n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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