A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17403657



Internal ID22461527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25105221..25106525hg38UCSC Ensembl
chr2:25328090..25329394hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381305
hg191305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5867717
Supporting Variants
Samples
Known GenesEFR3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17403657
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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