A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129231



Internal ID19281736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43500232..43500304hg38UCSC Ensembl
Outerchr22:43896112..43896184hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962663
SamplesKWS1
Known GenesMPPED1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129231
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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