A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505819



Internal ID282583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:85871526..85894202hg38UCSC Ensembl
chr12:86265304..86287980hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3822677
hg1922677
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689771
Samples
Known GenesNTS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505819
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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