A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048339



Internal ID21957572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112706438..112706438hg38UCSC Ensembl
chr1:113249060..113249060hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17522147
Samples
Known GenesRHOC
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048339
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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