A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6412644



Internal ID21070197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141415067..141423035hg38UCSC Ensembl
chr5:140794634..140802602hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg387969
hg197969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18125799
Samples
Known GenesPCDHGA1, PCDHGA10, PCDHGA11, 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)nsv6412644
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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