A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712570



Internal ID136236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31362699..31362903hg38UCSC Ensembl
chr17:29689717..29689921hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528637
Supporting Variants
Samples
Known GenesNF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712570
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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