A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5649n54



Internal ID20139073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46347360..46414176hg38UCSC Ensembl
chr17:44424726..44491542hg19UCSC Ensembl
chr17:41780482..41846978hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3866817
hg1966817
hg1866497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575303, nsv575292
Samples
Known GenesARL17A, ARL17B, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5649n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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