A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521047



Internal ID22390459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241197244..241197551hg38UCSC Ensembl
chr1:241360544..241360851hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv639n152
Supporting Variantsnssv14317001, nssv14316997, nssv14317003, nssv14317002, nssv14317000, nssv14316996, nssv14316999, nssv14316998, nssv14316995
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRGS7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3521047
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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