A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14296036



Internal ID22323577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218324846..218325025hg38UCSC Ensembl
chr2:219189569..219189748hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38n/a
hg19n/a
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204802
Supporting Variants
SamplesNA19240
Known GenesPNKD
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14296036
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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