A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3964569



Internal ID18893649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:31849880..31849995hg38UCSC Ensembl
Outerchr5:31849986..31850101hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1111672
Supporting Variants
SamplesKWS2
Known GenesPDZD2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3964569
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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