A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17392939



Internal ID22450809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101297211..101297268hg38UCSC Ensembl
chr2:101913673..101913730hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5882400
Supporting Variants
Samples
Known GenesRNF149
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17392939
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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