A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523818



Internal ID22393246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88423671..88423830hg38UCSC Ensembl
chr14:88890015..88890174hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2707n152
Supporting Variantsnssv14389408, nssv14381614, nssv14380710, nssv14382823, nssv14377204, nssv14375865, nssv14388361, nssv14388999, nssv14379628
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSPATA7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYC mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3523818
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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