A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052777



Internal ID103032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5048994..5049307hg38UCSC Ensembl
chr12:5158160..5158473hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511664
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052777
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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