A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202018



Internal ID22351238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183338150..183338224hg38UCSC Ensembl
chr1:183307285..183307359hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14298044, nssv14298042, nssv14298041, nssv14298043
SamplesHG00731, HG00733, HG00513, HG00514
Known GenesNMNAT2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202018
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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