A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438064



Internal ID216635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11696546..11697477hg38UCSC Ensembl
chr2:11836672..11837603hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38932
hg19932
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909728
Samples
Known GenesLPIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438064
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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