A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406991



Internal ID22464861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9702500..9702500hg38UCSC Ensembl
chr1:9762558..9762558hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5957609
Supporting Variants
Samples
Known GenesPIK3CD
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406991
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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