A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713270



Internal ID136936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44042897..44045323hg38UCSC Ensembl
chr17:42120265..42122691hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382427
hg192427
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5522972
Supporting Variants
Samples
Known GenesLSM12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713270
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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