A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6092637



Internal ID22001870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44800557..44800557hg38UCSC Ensembl
chr17:42877925..42877925hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17635879
Samples
Known GenesGJC1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6092637
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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