A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994521



Internal ID19204625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:67028997..67029497hg38UCSC Ensembl
Outerchr16:67062900..67063400hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143825
Supporting Variants
SamplesKWS1
Known GenesCBFB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994521
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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