A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057760



Internal ID106360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:61735702..61737796hg38UCSC Ensembl
chr12:62129483..62131577hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg382095
hg192095
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512078
Supporting Variants
Samples
Known GenesFAM19A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057760
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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