A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524818



Internal ID22394254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5474558..5474624hg38UCSC Ensembl
chr1:5534618..5534684hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14301493, nssv14301492, nssv14301491
SamplesNA19239, HG00731, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524818
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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