A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195507



Internal ID22345681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176929800..176931653hg38UCSC Ensembl
chr5:176356801..176358654hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381854
hg191854
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14325334, nssv14325340, nssv14325336, nssv14325332, nssv14325335, nssv14325333, nssv14325337, nssv14325338, nssv14325339
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesUIMC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195507
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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