A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187273



Internal ID22339637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37437674..37438001hg38UCSC Ensembl
chr7:37477277..37477604hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8477n152
Supporting Variantsnssv14332641, nssv14332637, nssv14332639, nssv14332643, nssv14332645, nssv14332640, nssv14332638, nssv14332644, nssv14332642
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesELMO1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3187273
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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