A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983641



Internal ID56472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:35842225..35842338hg38UCSC Ensembl
chr6:35810002..35810115hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457149
Supporting Variants
Samples
Known GenesSRPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983641
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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