A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228331



Internal ID22370551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93454323..93454479hg38UCSC Ensembl
chr13:94106576..94106732hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14371656
SamplesNA19240
Known GenesGPC6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228331
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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