A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955862



Internal ID16958049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179214086..179214218hg38UCSC Ensembl
Outerchr5:178641087..178641219hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3002175
SamplesBILGI_BIOE
Known GenesADAMTS2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955862
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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