A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128592



Internal ID18902912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:22577707..22579607hg38UCSC Ensembl
Outerchr1:22904200..22906100hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv59n106
Supporting Variantsnssv3960503
SamplesKWS1
Known GenesEPHA8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128592
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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