A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496598



Internal ID273671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95376479..95382228hg38UCSC Ensembl
chr12:95770255..95776004hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg385750
hg195750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684246
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496598
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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