A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504802



Internal ID281596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30573020..30575012hg38UCSC Ensembl
chr12:30725953..30727945hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381993
hg191993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057085
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504802
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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