A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292092



Internal ID22184146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28862205..28862350hg38UCSC Ensembl
chr2:29085071..29085216hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205797
Supporting Variants
SamplesHG00731
Known GenesTRMT61B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14292092
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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