A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285251



Internal ID22157080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7842362..7842459hg38UCSC Ensembl
chr19:7907248..7907345hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3534154
Supporting Variants
SamplesHG00514
Known GenesEVI5L
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285251
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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