A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125864



Internal ID18915215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:180249524..180249620hg38UCSC Ensembl
Outerchr5:179676524..179676620hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980006, nssv3962128
SamplesKWS2, KWS1
Known GenesMAPK9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125864
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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