A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14334325



Internal ID22125910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50205970..50206028hg38UCSC Ensembl
chr7:50245566..50245624hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200967
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14334325
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