A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5897683



Internal ID22672788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232381659..232409745hg38UCSC Ensembl
chr2:233246369..233274455hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3828087
hg1928087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1253n209
Supporting Variantsnssv17395338
Samples
Known GenesALPP, ALPPL2, ECEL1P2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5897683
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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