A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117365



Internal ID19259403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:196898741..196898906hg38UCSC Ensembl
Outerchr3:196625612..196625777hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962062, nssv3993887
SamplesKWS2, KWS1
Known GenesSENP5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117365
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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