A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125064



Internal ID19248789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:108497220..108505820hg38UCSC Ensembl
Outerchr9:111259500..111268100hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg388601
hg198601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977870
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125064
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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