A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988125



Internal ID19210234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:64026561..64026621hg38UCSC Ensembl
Outerchr17:62103921..62103981hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133237
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988125
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