A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959111



Internal ID19224167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60006139..60021139hg38UCSC Ensembl
Outerchr17:58083500..58098500hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3815001
hg1915001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118598
Supporting Variants
SamplesKWS1
Known GenesTBC1D3P1-DHX40P1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959111
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