A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111128



Internal ID19255493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23343577..23365553hg38UCSC Ensembl
Outerchr16:23354898..23376874hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3821977
hg1921977
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962353
SamplesKWS1
Known GenesSCNN1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111128
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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