A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5881110



Internal ID22656083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31028878..31035309hg38UCSC Ensembl
chr2:31251744..31258175hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg386432
hg196432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390713
Samples
Known GenesGALNT14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5881110
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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