A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14296030



Internal ID22257162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218309199..218309484hg38UCSC Ensembl
chr2:219173922..219174207hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525163
Supporting Variants
SamplesNA19238
Known GenesPNKD
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14296030
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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