A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501751



Internal ID278642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:126261197..126269696hg38UCSC Ensembl
chr10:127949766..127958265hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg388500
hg198500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17038973
Samples
Known GenesADAM12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501751
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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