A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17417171



Internal ID22475041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73127384..73127384hg38UCSC Ensembl
chr5:72423211..72423211hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5957750
Supporting Variants
Samples
Known GenesTMEM171
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17417171
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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