A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124013



Internal ID18917983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:176859753..176859813hg38UCSC Ensembl
Outerchr5:176286754..176286814hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974194
SamplesKWS2
Known GenesUNC5A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124013
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