A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3824n106



Internal ID20163181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51454942..51455131hg38UCSC Ensembl
chr8:52367502..52367691hg19UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1130580, nsv1120933
SamplesKWS2
Known GenesPXDNL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3824n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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