A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206427



Internal ID22354968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151293578..151293638hg38UCSC Ensembl
chr3:151011366..151011426hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14308280
SamplesHG00732
Known GenesMED12L
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206427
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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