A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5676n54



Internal ID20139100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48539657..48627174hg38UCSC Ensembl
chr17:46617019..46704536hg19UCSC Ensembl
chr17:43972018..44059535hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3887518
hg1987518
hg1887518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575480, nsv575483, nsv575482, nsv575481
SamplesNINDS_201, NINDS_210
Known GenesHOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HOXB-AS1, HOXB-AS3, MIR10A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5676n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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