A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506257



Internal ID283009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67533572..67534341hg38UCSC Ensembl
chr12:67927352..67928121hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38770
hg19770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688782
Samples
Known GenesLOC100507175
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506257
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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