A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5536596



Internal ID312049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8511062..8511084hg38UCSC Ensembl
chr17:8414380..8414402hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711277
Samples
Known GenesMYH10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5536596
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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