A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959557



Internal ID18868102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:55808388..55827188hg38UCSC Ensembl
Outerchr16:55842300..55861100hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3818801
hg1918801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110287
Supporting Variants
SamplesKWS1
Known GenesCES1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959557
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