A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526508



Internal ID22395888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99251908..99252124hg38UCSC Ensembl
chr2:99868371..99868587hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14293391, nssv14293389, nssv14293390, nssv14293392, nssv14293388
SamplesHG00512, NA19239, NA19240, HG00513, HG00514
Known GenesLYG2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526508
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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