A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502576



Internal ID279436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38320170..38326037hg38UCSC Ensembl
chr12:38713972..38719839hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg385868
hg195868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057541
Samples
Known GenesALG10B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502576
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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