A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199004



Internal ID22348656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204553531..204554757hg38UCSC Ensembl
chr1:204522659..204523885hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381227
hg191227
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14305251, nssv14305258, nssv14305254, nssv14305252, nssv14305255, nssv14305250, nssv14305253, nssv14305256, nssv14305257
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMDM4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199004
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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