A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229376



Internal ID22371246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122902420..122908133hg38UCSC Ensembl
chr12:123386967..123392680hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385714
hg195714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365976
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229376
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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