A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4104n100



Internal ID22790191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169513990..169568256hg38UCSC Ensembl
chr2:170370500..170424766hg19UCSC Ensembl
chr2:170078746..170133012hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3854267
hg1954267
hg1854267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999775, nsv1014351, nsv1009080
Samples
Known GenesFASTKD1, KLHL41
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4104n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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