A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495621



Internal ID272728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102442105..102445208hg38UCSC Ensembl
chr12:102835883..102838986hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg383104
hg193104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690417
Samples
Known GenesIGF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495621
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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