A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385183



Internal ID22182199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83892229..83892309hg38UCSC Ensembl
chr1:84357912..84357992hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195823
Supporting Variants
SamplesHG00514
Known GenesMIR548AP, TTLL7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14385183
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