A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14298042



Internal ID22162319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183338150..183338224hg38UCSC Ensembl
chr1:183307285..183307359hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202018
Supporting Variants
SamplesHG00514
Known GenesNMNAT2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14298042
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