A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992789



Internal ID19226449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23314979..23321579hg38UCSC Ensembl
Outerchr16:23326300..23332900hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg386601
hg196601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141283
Supporting Variants
SamplesKWS2
Known GenesSCNN1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992789
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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