A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208395



Internal ID22356642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62013487..62014912hg38UCSC Ensembl
chr1:62479159..62480584hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381426
hg191426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14366908, nssv14366907
SamplesHG00513, HG00514
Known GenesINADL
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208395
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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