A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464673



Internal ID242544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:10728000..10752000hg38UCSC Ensembl
chr6:10728233..10752233hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg3824001
hg1924001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16979598
Samples
Known GenesTMEM14B, TMEM14C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464673
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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