A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134492



Internal ID18904020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3733681..3733745hg38UCSC Ensembl
Outerchr16:3783682..3783746hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955174, nssv3969818
SamplesKWS1, KWS2
Known GenesCREBBP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134492
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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