A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055129



Internal ID104585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28068109..28069234hg38UCSC Ensembl
chr12:28221042..28222167hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381126
hg191126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496522
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055129
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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