A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324852



Internal ID22276075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3090782..3093955hg38UCSC Ensembl
chr6:3091016..3094189hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg383174
hg193174
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209287
Supporting Variants
SamplesNA19239
Known GenesRIPK1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324852
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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