A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564894



Internal ID22433618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50450661..50450661hg38UCSC Ensembl
chr7:50518359..50518359hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14334327, nssv14334326
SamplesHG00732, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3564894
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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