A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6096263



Internal ID22005496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48145907..48145907hg38UCSC Ensembl
chr17:46223269..46223269hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382644
hg192644
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17632731
Samples
Known GenesSKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6096263
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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