A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711277



Internal ID134943
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 StatusS
Merged Variantsnsv5536596
Supporting Variants
Samples
Known GenesMYH10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711277
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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