A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499690



Internal ID276653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112043870..112047663hg38UCSC Ensembl
chr12:112481674..112485467hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383794
hg193794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684531
Samples
Known GenesNAA25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499690
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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