A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5607n54



Internal ID20139031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44352876..44354844hg38UCSC Ensembl
chr17:42430244..42432212hg19UCSC Ensembl
chr17:39785770..39787738hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381969
hg191969
hg181969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575089, nsv575088
Samples
Known GenesFAM171A2, GRN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5607n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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