A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16979598



Internal ID53779
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 StatusS
Merged Variantsnsv5464673
Supporting Variants
Samples
Known GenesTMEM14B, TMEM14C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16979598
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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