A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503305



Internal ID280139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73822135..73834717hg38UCSC Ensembl
chr12:74215915..74228497hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3812583
hg1912583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689117
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503305
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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