A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17397192



Internal ID22455062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144886618..144891449hg38UCSC Ensembl
chr2:145644185..145649016hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg384832
hg194832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5891540
Supporting Variants
Samples
Known GenesTEX41
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17397192
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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