A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5348n54



Internal ID20138772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:169598..171764hg38UCSC Ensembl
chr17:19389..21555hg19UCSC Ensembl
chr17:19389..21555hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg382167
hg192167
hg182167
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv573868, nsv573867
Samples
Known GenesDOC2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5348n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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