A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117419



Internal ID19263949
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 StatusM
Merged Variants
Supporting Variantsnssv3979994
SamplesKWS2
Known GenesCYSTM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117419
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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