A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496041



Internal ID273130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49826270..49827332hg38UCSC Ensembl
chr12:50220053..50221115hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381063
hg191063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056916
Samples
Known GenesNCKAP5L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496041
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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