A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6064011



Internal ID21973244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117607276..117607276hg38UCSC Ensembl
chr7:117247330..117247330hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17563002
Samples
Known GenesCFTR
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6064011
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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