A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17424520



Internal ID22482390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141333382..141333382hg38UCSC Ensembl
chr5:140712949..140712949hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5958571
Supporting Variants
Samples
Known GenesPCDHGA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17424520
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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