A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989012



Internal ID60099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149758886..149759743hg38UCSC Ensembl
chr6:150080022..150080879hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38858
hg19858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465443
Supporting Variants
Samples
Known GenesPCMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989012
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00281


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