A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124352



Internal ID18936540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:73422717..73422775hg38UCSC Ensembl
Outerchr8:74334952..74335010hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975653
SamplesKWS2
Known GenesSTAU2, STAU2-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124352
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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