A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526316



Internal ID22395696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:195463205..195463279hg38UCSC Ensembl
chr2:196327929..196328003hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296178, nssv14296179
SamplesHG00731, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526316
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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