A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17455913



Internal ID22513790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49549252..49562576hg38UCSC Ensembl
chr13:50123388..50136712hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3813325
hg1913325
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5865247
Supporting Variants
Samples
Known GenesRCBTB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17455913
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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