A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526770



Internal ID22396153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105489231..105489294hg38UCSC Ensembl
chr2:106105688..106105751hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4716n152
Supporting Variantsnssv14294173, nssv14294172, nssv14294174
SamplesNA19238, NA19240, HG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526770
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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