A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4763653



Internal ID20539513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171977526..171977526hg38UCSC Ensembl
chr2:172842465..172842465hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16274987
Samples
Known GenesHAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4763653
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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