A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400535



Internal ID22458405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179969180..179970021hg38UCSC Ensembl
chr2:180833907..180834748hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38842
hg19842
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5888762
Supporting Variants
Samples
Known GenesCWC22
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400535
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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