A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242906



Internal ID22375420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:88221689..88222588hg38UCSC Ensembl
chr7:87851004..87851903hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14335906, nssv14335910, nssv14335907, nssv14335909, nssv14335911, nssv14335912, nssv14335908
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesSRI
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a L1PA2 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242906
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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