A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123854



Internal ID18914552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:147537804..147537856hg38UCSC Ensembl
Outerchr4:148458956..148459008hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974014
SamplesKWS2
Known GenesEDNRA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123854
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