A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14317440



Internal ID22117239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144314177..144314240hg38UCSC Ensembl
chr4:145235329..145235392hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200383
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14317440
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