A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498086



Internal ID275092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30763933..30771049hg38UCSC Ensembl
chr12:30916867..30923983hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg387117
hg197117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057103
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498086
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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