A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6407127



Internal ID21064680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141480504..141482779hg38UCSC Ensembl
chr5:140860071..140862346hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382276
hg192276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18125802
Samples
Known GenesPCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6407127
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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