A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564510



Internal ID22433240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:108188819..108188819hg38UCSC Ensembl
chr7:107829263..107829263hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14337557, nssv14337565, nssv14337560, nssv14337564, nssv14337563, nssv14337558, nssv14337561, nssv14337562, nssv14337559
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNRCAM
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3564510
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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