A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17403665



Internal ID22461535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48533268..48533575hg38UCSC Ensembl
chr2:48760407..48760714hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5869084
Supporting Variants
Samples
Known GenesSTON1, STON1-GTF2A1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17403665
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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