A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517916



Internal ID294319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36435980..36562000hg38UCSC Ensembl
chr17:34804516..34917840hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38126021
hg19113325
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712861
Samples
Known GenesGGNBP2, MYO19, PIGW, TBC1D3G, ZNHIT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517916
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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