A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17429467



Internal ID22487337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151777918..151777918hg38UCSC Ensembl
chr5:151157479..151157479hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5952316
Supporting Variants
Samples
Known GenesG3BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17429467
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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