A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480554



Internal ID22538457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158350384..158360895hg38UCSC Ensembl
chr2:159206896..159217407hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3810512
hg1910512
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5831376
Supporting Variants
Samples
Known GenesCCDC148
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480554
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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