A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125061



Internal ID18911650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69507284..69511884hg38UCSC Ensembl
Outerchr9:72122200..72126800hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg384601
hg194601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977867
SamplesKWS2
Known GenesAPBA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125061
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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