A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377575



Internal ID22435445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42811148..42811148hg38UCSC Ensembl
chr1:43276819..43276819hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5958394
Supporting Variants
Samples
Known GenesCCDC23
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377575
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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