A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5652647



Internal ID21600952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8518805..8518805hg38UCSC Ensembl
chr17:8422123..8422123hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38448
hg19448
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17100392
SamplesHG01114
Known GenesMYH10
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5652647
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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