A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17092333



Internal ID21431923
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 StatusS
Merged Variantsnsv5659518
Supporting Variants
SamplesHG00731
Known GenesNCAPD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17092333
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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