A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6398660



Internal ID21056213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141068401..141554700hg38UCSC Ensembl
chr5:140447986..140934267hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38486300
hg19486282
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5970n223
Supporting Variantsnssv18213361
Samples
Known GenesDIAPH1, LOC101926905, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB17, PCDHB18, PCDHB19P, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGB8P, PCDHGC3, PCDHGC4, PCDHGC5, SLC25A2, TAF7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6398660
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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