A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11464n54



Internal ID22779359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76478687..77008124hg38UCSC Ensembl
chr7:76108004..76637441hg19UCSC Ensembl
chr7:75945940..76475377hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38529438
hg19529438
hg18529438
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv607594, nsv607588, nsv607586, nsv607623, nsv607597, nsv607596, nsv607601, nsv607621, nsv607626, nsv607625, nsv607622
SamplesNINDS_20
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, LOC100133091, POMZP3, UPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11464n54
Frequency
Sample Size17421
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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