A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526947



Internal ID22396331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76774377..76774453hg38UCSC Ensembl
chr1:77240062..77240138hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14387271
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526947
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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