A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712544



Internal ID136210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30977825..30983529hg38UCSC Ensembl
chr17:29304843..29310547hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg385705
hg195705
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532887
Supporting Variants
Samples
Known GenesRNF135
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712544
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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