A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969119



Internal ID18898856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52409984..52410684hg38UCSC Ensembl
Outerchr3:52444000..52444700hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133557
Supporting Variants
SamplesKWS2
Known GenesBAP1, PHF7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969119
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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