A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17415548



Internal ID22473418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160090937..160090937hg38UCSC Ensembl
chr5:159517944..159517944hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5965332
Supporting Variants
Samples
Known GenesPWWP2A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17415548
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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