A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125765



Internal ID18940029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:293870..293942hg38UCSC Ensembl
Outerchr3:335553..335625hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983971
SamplesKWS2
Known GenesCHL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125765
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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