A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5590443



Internal ID21539011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75095746..75096616hg38UCSC Ensembl
chr17:73091841..73092711hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38871
hg19871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17091936
SamplesNA19239
Known GenesSLC16A5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5590443
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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