A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17710901



Internal ID134567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2238874..2238950hg38UCSC Ensembl
chr17:2142168..2142244hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520434
Supporting Variants
Samples
Known GenesSMG6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17710901
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.012644


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