A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6247605



Internal ID22052215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119135816..119135816hg38UCSC Ensembl
chr10:120895328..120895328hg19UCSC Ensembl
Cytoband10q26.11
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 Variantsnssv17842298
Samples
Known GenesFAM45A, FAM45B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6247605
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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