A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6072100



Internal ID21981333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60543397..60543397hg38UCSC Ensembl
chr8:61455956..61455956hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17582700
Samples
Known GenesRAB2A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6072100
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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