A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983848



Internal ID18888157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:67104152..67106299hg38UCSC Ensembl
Outerchr17:65100268..65102415hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg382148
hg192148
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125640
Supporting Variants
SamplesKWS2
Known GenesHELZ
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983848
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