A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125230



Internal ID19271165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:32604407..32604473hg38UCSC Ensembl
Outerchr22:33000393..33000459hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978035
SamplesKWS2
Known GenesSYN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125230
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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