A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5890942



Internal ID22665973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:175980299..175981018hg38UCSC Ensembl
chr2:176845027..176845746hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38720
hg19720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396056
Samples
Known GenesKIAA1715
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5890942
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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