A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376949



Internal ID22434819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74482697..74482697hg38UCSC Ensembl
chr17:72478836..72478836hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5969422
Supporting Variants
Samples
Known GenesCD300A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376949
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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