A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14337162



Internal ID22131310
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245850
Supporting Variants
SamplesHG00513
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)nssv14337162
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer