A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000577



Internal ID18840948
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 StatusS
Merged Variantsnsv1148540
Supporting Variants
SamplesKWB1
Known GenesCAMSAP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000577
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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