A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526184



Internal ID22395564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141480314..141482767hg38UCSC Ensembl
chr5:140859881..140862334hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382454
hg192454
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14325837, nssv14325836
SamplesHG00732, HG00733
Known GenesPCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526184
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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