A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17036247



Internal ID91912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:59292027..59293315hg38UCSC Ensembl
chr10:61051787..61053075hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg381289
hg191289
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481602
Supporting Variants
Samples
Known GenesFAM13C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17036247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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