A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17388388



Internal ID22446258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10495760..10495760hg38UCSC Ensembl
chr17:10399077..10399077hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5970150
Supporting Variants
Samples
Known GenesMYH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17388388
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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