A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139469



Internal ID18920733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12828740..12831446hg38UCSC Ensembl
Outerchr1:12888600..12891300hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg382707
hg192701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977056
SamplesKWS2
Known GenesPRAMEF11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139469
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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