A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324825



Internal ID22261001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2694492..2694605hg38UCSC Ensembl
chr6:2694726..2694839hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205599
Supporting Variants
SamplesNA19238
Known GenesMYLK4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324825
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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