A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198234



Internal ID22347986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9123310..9123394hg38UCSC Ensembl
chr1:9183369..9183453hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv98n152
Supporting Variantsnssv14319507, nssv14319504, nssv14319506, nssv14319508, nssv14319503, nssv14319505
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known GenesGPR157
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198234
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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