A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713934



Internal ID137600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62444265..62444347hg38UCSC Ensembl
chr17:60521626..60521708hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521827
Supporting Variants
Samples
Known GenesMETTL2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713934
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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