A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14296077



Internal ID22161468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219443251..219446900hg38UCSC Ensembl
chr2:220307973..220311622hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383650
hg193650
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198737
Supporting Variants
SamplesHG00514
Known GenesSPEG
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14296077
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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