A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562731



Internal ID22431477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124922700..124922700hg38UCSC Ensembl
chr3:124641547..124641547hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14309415, nssv14309416, nssv14309414
SamplesHG00731, HG00732, HG00733
Known GenesMUC13
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562731
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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