A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969811



Internal ID47190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134268380..134273593hg38UCSC Ensembl
chr6:134589518..134594731hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg385214
hg195214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458454
Supporting Variants
Samples
Known GenesSGK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969811
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.137883


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