A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17451674



Internal ID22509546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44413822..44417041hg38UCSC Ensembl
chr1:44879494..44882713hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg383220
hg193220
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830021
Supporting Variants
Samples
Known GenesRNF220
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17451674
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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