A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056193



Internal ID105285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19517874..19517956hg38UCSC Ensembl
chr12:19670808..19670890hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508013
Supporting Variants
Samples
Known GenesAEBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056193
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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