A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974243



Internal ID22749178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68282779..68282779hg38UCSC Ensembl
chr17:66278920..66278920hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388798
Samples
Known GenesARSG, SLC16A6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974243
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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