A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229474



Internal ID22371316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14382621..14383232hg38UCSC Ensembl
chr19:14493433..14494044hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14286115
SamplesHG00512
Known GenesCD97
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229474
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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