A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16985602



Internal ID57811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75092637..75092839hg38UCSC Ensembl
chr6:75802353..75802555hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469251
Supporting Variants
Samples
Known GenesCOL12A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16985602
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004839


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