A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992801



Internal ID18887405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89157292..89159892hg38UCSC Ensembl
Outerchr16:89223700..89226300hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141296
Supporting Variants
SamplesKWS2
Known GenesLINC00304
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992801
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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