A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522937



Internal ID22392361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232639783..232640095hg38UCSC Ensembl
chr1:232775529..232775841hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv605n152
Supporting Variantsnssv14314683, nssv14314680, nssv14314675, nssv14314682, nssv14314677, nssv14314679, nssv14314681, nssv14314676, nssv14314678
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
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)nsv3522937
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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