A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960103



Internal ID18877390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179223199..179224199hg38UCSC Ensembl
Outerchr5:178650200..178651200hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110452
Supporting Variants
SamplesKWS1
Known GenesADAMTS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960103
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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