A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245850



Internal ID22376262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104507141..104508618hg38UCSC Ensembl
chr7:104147589..104149066hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg381478
hg191478
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14336782, nssv14337163, nssv14337164, nssv14336781, nssv14337161, nssv14337162, nssv14336783
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513
Known GenesLHFPL3
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)nsv3245850
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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