A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6103913



Internal ID22013146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46120486..46120486hg38UCSC Ensembl
chr18:43700452..43700452hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17634031
Samples
Known GenesHAUS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6103913
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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