A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3316n106



Internal ID20162673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53990702..54001652hg38UCSC Ensembl
chr6:53855500..53866450hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3810951
hg1910951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1132963, nsv1123192
SamplesKWS1
Known GenesMLIP-IT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3316n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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