A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203868



Internal ID22352812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2608896..2608995hg38UCSC Ensembl
chr1:2540335..2540434hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14368584
SamplesNA19240
Known GenesMMEL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203868
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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