A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894175



Internal ID22669245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140704745..140862604hg38UCSC Ensembl
chr5:140084330..140242189hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38157860
hg19157860
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17420395
Samples
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, VTRNA1-1, VTRNA1-2, VTRNA1-3, ZMAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894175
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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