A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909728



Internal ID7257
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 StatusS
Merged Variantsnsv5438064
Supporting Variants
Samples
Known GenesLPIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909728
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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