A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17422184



Internal ID22480054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140836035..140842979hg38UCSC Ensembl
chr5:140215620..140222564hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg386945
hg196945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5898656
Supporting Variants
Samples
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17422184
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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