A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988325



Internal ID18874934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:151203854..151203916hg38UCSC Ensembl
Outerchr5:150583415..150583477hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133364
Supporting Variants
SamplesKWS1
Known GenesCCDC69
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988325
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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