A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204802



Internal ID22353595
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4992n152
Supporting Variantsnssv14296034, nssv14296033, nssv14296036, nssv14296035
SamplesHG00512, NA19239, NA19240, HG00514
Known GenesPNKD
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204802
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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