A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525494



Internal ID22394872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42252913..42252990hg38UCSC Ensembl
chr2:42480053..42480130hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14292545, nssv14292546
SamplesHG00512, HG00514
Known GenesEML4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525494
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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