A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525163



Internal ID22394539
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296032, nssv14296030, nssv14296027, nssv14296026, nssv14296029, nssv14296031, nssv14296028
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known GenesPNKD
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525163
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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