A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125783



Internal ID19248397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:149851612..149851686hg38UCSC Ensembl
Outerchr3:149569399..149569473hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983988
SamplesKWS2
Known GenesRNF13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125783
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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