A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994494



Internal ID19203813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1309499..1309999hg38UCSC Ensembl
Outerchr16:1359500..1360000hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143799
Supporting Variants
SamplesKWS1
Known GenesUBE2I
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994494
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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