A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5659518



Internal ID21607823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6504180..6504180hg38UCSC Ensembl
chr12:6613346..6613346hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17092333
SamplesHG00731
Known GenesNCAPD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5659518
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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