A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6256004



Internal ID22060614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14796490..14796490hg38UCSC Ensembl
chr5:14796599..14796599hg19UCSC Ensembl
Cytoband5p15.2
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 Variantsnssv17858348
Samples
Known GenesANKH
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6256004
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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