A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909729



Internal ID7258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11697221..11699962hg38UCSC Ensembl
chr2:11837347..11840088hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382742
hg192742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437592
Supporting Variants
Samples
Known GenesLPIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909729
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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