A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17482277



Internal ID22540182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8925325..8927574hg38UCSC Ensembl
chr2:9065455..9067703hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382250
hg192249
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5834090
Supporting Variants
Samples
Known GenesMBOAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17482277
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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