A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133200



Internal ID19257197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:99476965..99477059hg38UCSC Ensembl
Outerchr13:100129219..100129313hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988068
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133200
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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