A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14296033



Internal ID22125575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218324846..218325025hg38UCSC Ensembl
chr2:219189569..219189748hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204802
Supporting Variants
SamplesHG00512
Known GenesPNKD
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14296033
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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