A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17424351



Internal ID22482221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141480504..141482778hg38UCSC Ensembl
chr5:140860071..140862345hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382275
hg192275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5892008
Supporting Variants
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
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17424351
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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