A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6400056



Internal ID21057609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141430969..141436046hg38UCSC Ensembl
chr5:140810536..140815613hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385078
hg195078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18125801
Samples
Known GenesPCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6400056
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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