A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523647



Internal ID22393075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99149138..99149443hg38UCSC Ensembl
chr4:100070295..100070600hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6763n152
Supporting Variantsnssv14315412, nssv14315408, nssv14315406, nssv14315405, nssv14315410, nssv14315413, nssv14315409, nssv14315411, nssv14315407
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLOC100507053
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)nsv3523647
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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