A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712399



Internal ID136065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29062364..29066364hg38UCSC Ensembl
chr17:27389382..27393382hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg384001
hg194001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533461
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712399
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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