A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525678



Internal ID301828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11943389..11949847hg38UCSC Ensembl
chr17:11846706..11853164hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg386459
hg196459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711464
Samples
Known GenesDNAH9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525678
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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