A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115111



Internal ID19281525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:84287310..84287366hg38UCSC Ensembl
Outerchr8:85199545..85199601hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976078, nssv3958000
SamplesKWS2, KWS1
Known GenesRALYL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115111
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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