A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054677



Internal ID104280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6504182..6504232hg38UCSC Ensembl
chr12:6613348..6613398hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505485
Supporting Variants
Samples
Known GenesNCAPD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054677
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.170319


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