A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519123



Internal ID15446416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:101040264..101047122hg38UCSC Ensembl
Innerchr2:101656726..101663584hg19UCSC Ensembl
Innerchr2:101023158..101030016hg18UCSC Ensembl
Innerchr2:101115244..101122102hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg386859
hg196859
hg186859
hg176859
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696598
Samples
Known GenesTBC1D8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519123
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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