A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197195



Internal ID22347101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161347334..161347825hg38UCSC Ensembl
chr1:161317124..161317615hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289204, nssv14289202, nssv14289203, nssv14289205
SamplesNA19238, NA19239, HG00733, HG00514
Known GenesSDHC
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197195
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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