A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434934



Internal ID213594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11689766..11699692hg38UCSC Ensembl
chr2:11829892..11839818hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg389927
hg199927
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909726
Samples
Known GenesLPIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434934
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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