A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6750n54



Internal ID20140174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32405366..33107871hg38UCSC Ensembl
chr2:32630434..33332938hg19UCSC Ensembl
chr2:32483938..33186442hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38702506
hg19702505
hg18702505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581282, nsv581279, nsv581270, nsv581275, nsv581272, nsv581273, nsv581280, nsv581278, nsv581271, nsv581277, nsv581276
SamplesNINDS_147, 1787431166_A, HGDP00896
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6750n54
Frequency
Sample Size17421
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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