A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199146



Internal ID22348772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31205758..31206087hg38UCSC Ensembl
chr1:31678605..31678934hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14357884, nssv14357885, nssv14357883
SamplesHG00512, NA19239, HG00514
Known GenesNKAIN1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199146
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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