A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970066



Internal ID47370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132509448..132509515hg38UCSC Ensembl
chr6:132830587..132830654hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454610
Supporting Variants
Samples
Known GenesSTX7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970066
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.02045


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