A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17401627



Internal ID22459497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68752301..68752350hg38UCSC Ensembl
chr2:68979433..68979482hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5877806
Supporting Variants
Samples
Known GenesARHGAP25
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17401627
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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