A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496161



Internal ID273245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6976509..6976634hg38UCSC Ensembl
chr12:7085671..7085796hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055071
Samples
Known GenesLPCAT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496161
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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