A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114675



Internal ID18908455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:31817350..31817419hg38UCSC Ensembl
Outerchr5:31817457..31817526hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974580
SamplesKWS2
Known GenesPDZD2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114675
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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