A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560930



Internal ID333923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11808583..11815670hg38UCSC Ensembl
chr17:11711900..11718987hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg387088
hg197088
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711454
Samples
Known GenesDNAH9
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560930
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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