A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563804



Internal ID22432540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8239258..8239258hg38UCSC Ensembl
chr4:8240985..8240985hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14311346, nssv14311347
SamplesNA19239, NA19240
Known GenesSH3TC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3563804
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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