A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192271



Internal ID22342881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161068985..161071277hg38UCSC Ensembl
chr1:161038775..161041067hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382293
hg192293
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14288693, nssv14288694, nssv14288700, nssv14288699, nssv14288692, nssv14288695, nssv14288696, nssv14288698, nssv14288697
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesARHGAP30, PVRL4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192271
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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