A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992782



Internal ID18888232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:14712643..14726143hg38UCSC Ensembl
Outerchr16:14806500..14820000hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3813501
hg1913501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141276
Supporting Variants
SamplesKWS2
Known GenesNPIPA2, NPIPA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992782
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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