A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712417



Internal ID136083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29269848..29278357hg38UCSC Ensembl
chr17:27596866..27605375hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg388510
hg198510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532821
Supporting Variants
Samples
Known GenesNUFIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712417
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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