A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002241



Internal ID18845108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:14760742..14774343hg38UCSC Ensembl
Outerchr16:14854599..14868200hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3813602
hg1913602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153585
Supporting Variants
SamplesKWB1
Known GenesNPIPA2, NPIPA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002241
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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