A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115340



Internal ID18940273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:22577807..22579507hg38UCSC Ensembl
Outerchr1:22904300..22906000hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv59n106
Supporting Variantsnssv3976391
SamplesKWS2
Known GenesEPHA8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115340
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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