A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143227



Internal ID18914165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:77915319..77915445hg38UCSC Ensembl
Outerchr9:80530235..80530361hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994042, nssv3962970
SamplesKWS1, KWS2
Known GenesGNAQ
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143227
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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