A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125239



Internal ID18920748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8289873..8289925hg38UCSC Ensembl
Outerchr4:8291600..8291652hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978044
SamplesKWS2
Known GenesHTRA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125239
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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