A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712564



Internal ID136230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31293137..31293222hg38UCSC Ensembl
chr17:29620155..29620240hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530310
Supporting Variants
Samples
Known GenesNF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712564
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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