A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16985627



Internal ID57829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75480298..75480314hg38UCSC Ensembl
chr6:76190014..76190030hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552929
Supporting Variants
Samples
Known GenesFILIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16985627
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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