A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992784



Internal ID18887882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:14893943..15030443hg38UCSC Ensembl
Outerchr16:14987800..15124300hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38136501
hg19136501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141278
Supporting Variants
SamplesKWS2
Known GenesLOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, PDXDC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992784
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer