A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14337208



Internal ID22255444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152385320..152385644hg38UCSC Ensembl
chr7:152082405..152082729hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3187081
Supporting Variants
SamplesNA19238
Known GenesKMT2C
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)nssv14337208
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