A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470247



Internal ID248017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140415528..140420106hg38UCSC Ensembl
chr5:139795113..139799691hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384579
hg194579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974476
Samples
Known GenesANKHD1, ANKHD1-EIF4EBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470247
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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