A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5890593



Internal ID22665621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:114494685..114494784hg38UCSC Ensembl
chr2:115252262..115252361hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401235
Samples
Known GenesDPP10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5890593
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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