A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912308



Internal ID8956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44500757..44719900hg38UCSC Ensembl
chr2:44727896..44947039hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38219144
hg19219144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453211
Supporting Variants
Samples
Known GenesCAMKMT, MIR548AD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912308
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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