A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4764623



Internal ID20540483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40448635..40448635hg38UCSC Ensembl
chr12:40842437..40842437hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16269960
Samples
Known GenesMUC19
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4764623
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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