A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970065



Internal ID47369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132491880..132494449hg38UCSC Ensembl
chr6:132813019..132815588hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg382570
hg192570
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5467483
Supporting Variants
Samples
Known GenesSTX7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970065
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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