A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14336300



Internal ID22143545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100652588..100653042hg38UCSC Ensembl
chr7:100250211..100250665hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209955
Supporting Variants
SamplesHG00513
Known GenesACTL6B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14336300
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