A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6257974



Internal ID22062584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100519676..100519676hg38UCSC Ensembl
chr9:103281958..103281958hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17841119
Samples
Known GenesMSANTD3-TMEFF1, TMEFF1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6257974
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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