A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14335439



Internal ID22196197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:55462651..55462913hg38UCSC Ensembl
chr7:55530344..55530606hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523229
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14335439
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