A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6063230



Internal ID21972463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117716186..117716186hg38UCSC Ensembl
chr7:117356240..117356240hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17565118
Samples
Known GenesCTTNBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6063230
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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