A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507646



Internal ID284359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76711825..76720279hg38UCSC Ensembl
chr12:77105605..77114059hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg388455
hg198455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689285
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507646
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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