A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203650



Internal ID22352624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58931368..58936638hg38UCSC Ensembl
chr1:59397040..59402310hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg385271
hg195271
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14368529, nssv14368524, nssv14368528, nssv14368531, nssv14368525, nssv14368527, nssv14368523, nssv14368530, nssv14368526
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203650
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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