A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117410



Internal ID18905229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:31970103..31970169hg38UCSC Ensembl
Outerchr5:31970209..31970275hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979984
SamplesKWS2
Known GenesPDZD2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117410
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