A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17484885



Internal ID22542795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10150995..10154594hg38UCSC Ensembl
chr2:10291122..10294721hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830873
Supporting Variants
Samples
Known GenesC2orf48
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17484885
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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