A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141588



Internal ID19269377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:36387082..36394282hg38UCSC Ensembl
Outerchr8:36244600..36251800hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg387201
hg197201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993095
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141588
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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