A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496026



Internal ID273115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31674831..31677126hg38UCSC Ensembl
chr12:31827765..31830060hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382296
hg192296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057174
Samples
Known GenesAMN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496026
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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