A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14338273



Internal ID22146994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129619413..129619494hg38UCSC Ensembl
chr7:129259254..129259335hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229097
Supporting Variants
SamplesHG00514
Known GenesNRF1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14338273
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