A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516549



Internal ID293003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37715872..37716385hg38UCSC Ensembl
chr17:36075880..36076393hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712926
Samples
Known GenesHNF1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516549
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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