A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526688



Internal ID22396071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:175844747..175845002hg38UCSC Ensembl
chr2:176709475..176709730hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14295656, nssv14295657
SamplesNA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526688
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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