A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400129



Internal ID22457999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9466193..9466376hg38UCSC Ensembl
chr2:9606322..9606505hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5879590
Supporting Variants
Samples
Known GenesCPSF3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400129
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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