A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196837



Internal ID22346783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216690901..216693600hg38UCSC Ensembl
chr2:217555624..217558323hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14295970, nssv14295972, nssv14295964, nssv14295969, nssv14295966, nssv14295968, nssv14295971, nssv14295967, nssv14295965
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesIGFBP5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196837
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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