A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325837



Internal ID22234586
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526184
Supporting Variants
SamplesHG00733
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)nssv14325837
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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