A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142547



Internal ID19281506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:2814057..2814257hg38UCSC Ensembl
Outerchr9:2814057..2814257hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994038
SamplesKWS2
Known GenesKIAA0020
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142547
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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