A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196792



Internal ID22346748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11924211..11924387hg38UCSC Ensembl
chr1:11984268..11984444hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14331649, nssv14331648
SamplesNA19238, HG00514
Known GenesKIAA2013
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196792
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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