A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470632



Internal ID248386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:84055797..84502865hg38UCSC Ensembl
chr6:84765516..85212583hg19UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg38447069
hg19447068
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984959
Samples
Known GenesKIAA1009, MRAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470632
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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