A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4760254



Internal ID20536114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52918154..52918154hg38UCSC Ensembl
chr12:53311938..53311938hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16292408
Samples
Known GenesKRT8
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4760254
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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