A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14371870



Internal ID22150875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54972471..54972590hg38UCSC Ensembl
chr14:55439189..55439308hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210976
Supporting Variants
SamplesHG00514
Known GenesWDHD1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14371870
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