A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17410015



Internal ID22467885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141393101..141403239hg38UCSC Ensembl
chr5:140772668..140782806hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3810139
hg1910139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5896403
Supporting Variants
Samples
Known GenesPCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17410015
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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