A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110568



Internal ID19285218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:41131771..41139640hg38UCSC Ensembl
Outerchr9:69205000..69213300hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg387870
hg198301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960222
SamplesKWS1
Known GenesCBWD6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110568
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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