A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512625



Internal ID289176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94343475..94343792hg38UCSC Ensembl
chr12:94737251..94737568hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684183
Samples
Known GenesCCDC41
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512625
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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