A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994964



Internal ID19209764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:117861461..117863461hg38UCSC Ensembl
Outerchr8:118873700..118875700hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144232
Supporting Variants
SamplesKWS1
Known GenesEXT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994964
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