A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5915088



Internal ID22690306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6520389..6520454hg38UCSC Ensembl
chr12:6629555..6629620hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369548
Samples
Known GenesNCAPD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5915088
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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