A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17131663



Internal ID21445382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141333382..141333382hg38UCSC Ensembl
chr5:140712949..140712949hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5635789
Supporting Variants
SamplesHG00732
Known GenesPCDHGA1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17131663
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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