A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139933



Internal ID18919729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:32172784..32177484hg38UCSC Ensembl
Outerchr8:32030300..32035000hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg384701
hg194701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978269
SamplesKWS2
Known GenesNRG1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139933
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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