A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115793



Internal ID18914373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:120300861..120303261hg38UCSC Ensembl
Outerchr8:121313100..121315500hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg382401
hg192401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977602
SamplesKWS2
Known GenesCOL14A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115793
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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