A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712029



Internal ID135695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19742313..19742432hg38UCSC Ensembl
chr17:19645626..19645745hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527454
Supporting Variants
Samples
Known GenesALDH3A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712029
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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