A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124677



Internal ID19259108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113983789..113993224hg38UCSC Ensembl
Outerchr13:114753200..114758700hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg389436
hg195501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976731
SamplesKWS2
Known GenesRASA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124677
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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