A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115692



Internal ID18915584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:65165173..65169773hg38UCSC Ensembl
Outerchr5:64461000..64465600hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg384601
hg194601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977500
SamplesKWS2
Known GenesADAMTS6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115692
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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