A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6033965



Internal ID21943308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39948343..39963585hg38UCSC Ensembl
chr17:38104596..38119838hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg3815243
hg1915243
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17636504
Samples
Known GenesGSDMA
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6033965
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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