A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979643



Internal ID18888889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6773581..6773657hg38UCSC Ensembl
Outerchr16:6823582..6823658hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142872
Supporting Variants
SamplesKWS2
Known GenesRBFOX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979643
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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