A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526697



Internal ID22396080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101023082..101023206hg38UCSC Ensembl
chr2:101639544..101639668hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14294054, nssv14294056, nssv14294055, nssv14294053, nssv14294052
SamplesHG00512, HG00731, HG00733, HG00513, HG00514
Known GenesTBC1D8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526697
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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