A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14313360



Internal ID22298383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:30758493..30758959hg38UCSC Ensembl
chr4:30760115..30760581hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202615
Supporting Variants
SamplesNA19240
Known GenesPCDH7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14313360
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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