A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253291



Internal ID22057901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207120582..207120582hg38UCSC Ensembl
chr2:207985306..207985306hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17851119
Samples
Known GenesKLF7
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253291
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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