A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1155930



Internal ID22086435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241592107..241657903hg38UCSC Ensembl
Outerchr2:241585172..241666547hg38UCSC Ensembl
Innerchr2:242531522..242597318hg19UCSC Ensembl
Outerchr2:242524587..242605962hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3881376
hg1981376
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4016199
Samples
Known GenesATG4B, THAP4
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1155930
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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