A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148540



Internal ID18848472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:135834353..135840354hg38UCSC Ensembl
Outerchr9:138726199..138732200hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg386002
hg196002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000577
SamplesKWB1
Known GenesCAMSAP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148540
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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