A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14370302



Internal ID22123688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64037667..64037749hg38UCSC Ensembl
chr14:64504385..64504467hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527595
Supporting Variants
SamplesHG00512
Known GenesMIR548AZ, SYNE2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14370302
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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