A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129054



Internal ID18939033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:90840918..90842718hg38UCSC Ensembl
Outerchr9:93603200..93605000hg19UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg381801
hg191801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961727
SamplesKWS1
Known GenesSYK
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129054
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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