A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14327232



Internal ID22127299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45523345..45523891hg38UCSC Ensembl
chr6:45491082..45491628hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38547
hg19547
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191042
Supporting Variants
SamplesHG00512
Known GenesRUNX2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14327232
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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