A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17438098



Internal ID22495968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75779010..75782354hg38UCSC Ensembl
chr6:76488727..76492071hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg383345
hg193345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894505
Supporting Variants
Samples
Known GenesMYO6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17438098
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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