A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285964



Internal ID22119563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10071985..10072051hg38UCSC Ensembl
chr19:10182661..10182727hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219320
Supporting Variants
SamplesHG00512
Known GenesC3P1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285964
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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