A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116356



Internal ID19276146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:173585306..173585663hg38UCSC Ensembl
Outerchr5:173012309..173012666hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3218n106
Supporting Variantsnssv3955486
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116356
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer