A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5148n54



Internal ID20138572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57692011..57695519hg38UCSC Ensembl
chr16:57725923..57729431hg19UCSC Ensembl
chr16:56283424..56286932hg18UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg383509
hg193509
hg183509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv572755, nsv572747
Samples
Known GenesCCDC135
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5148n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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