A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979994



Internal ID19229118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:140188509..140215553hg38UCSC Ensembl
Outerchr5:139568094..139595138hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3827045
hg1927045
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1117419
Supporting Variants
SamplesKWS2
Known GenesCYSTM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979994
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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