A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495170



Internal ID272290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126463767..126616017hg38UCSC Ensembl
chr12:126948313..127100563hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38152251
hg19152251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685177
Samples
Known GenesLOC100128554
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495170
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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