A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5897172



Internal ID22672271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213564245..213584660hg38UCSC Ensembl
chr2:214428969..214449384hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3820416
hg1920416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401570
Samples
Known GenesSPAG16
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5897172
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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