A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17414178



Internal ID22472048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52945136..52945136hg38UCSC Ensembl
chr3:52979152..52979152hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5956804
Supporting Variants
Samples
Known GenesSFMBT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17414178
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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