A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210000



Internal ID22357990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234740986..234741114hg38UCSC Ensembl
chr1:234876733..234876861hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14313510
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210000
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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