A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500359



Internal ID277297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51035633..51071431hg38UCSC Ensembl
chr12:51429416..51465214hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3835799
hg1935799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058546
Samples
Known GenesCSRNP2, LETMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500359
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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