A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128450



Internal ID18911738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:120040323..120040387hg38UCSC Ensembl
Outerchr8:121052562..121052626hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958805
SamplesKWS1
Known GenesDEPTOR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128450
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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