A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202884



Internal ID22351985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50920512..50922160hg38UCSC Ensembl
chr7:50988209..50989857hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg381649
hg191649
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14334604, nssv14334606, nssv14334603, nssv14334602, nssv14334605, nssv14334600, nssv14334608, nssv14334607, nssv14334601
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)nsv3202884
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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