A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500769



Internal ID277695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46368924..46368994hg38UCSC Ensembl
chr12:46762707..46762777hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056727
Samples
Known GenesSLC38A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500769
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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