A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14335908



Internal ID22182881
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242906
Supporting Variants
SamplesHG00514
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)nssv14335908
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