A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125066



Internal ID19251166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:135836154..135840054hg38UCSC Ensembl
Outerchr9:138728000..138731900hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg383901
hg193901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977872
SamplesKWS2
Known GenesCAMSAP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125066
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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