A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523528



Internal ID22392956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104974758..104975087hg38UCSC Ensembl
chr7:104615205..104615534hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8701n152
Supporting Variantsnssv14336813, nssv14336810, nssv14336811, nssv14336809, nssv14336814, nssv14336808, nssv14336812
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3523528
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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