A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4767723



Internal ID20543583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60543373..60543373hg38UCSC Ensembl
chr8:61455932..61455932hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16276345
Samples
Known GenesRAB2A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4767723
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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