A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517929



Internal ID15445222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46989955..47016173hg38UCSC Ensembl
Innerchr2:47217094..47243312hg19UCSC Ensembl
Innerchr2:47070598..47096816hg18UCSC Ensembl
Innerchr2:47128745..47154963hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3826219
hg1926219
hg1826219
hg1726219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695342
Samples
Known GenesTTC7A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517929
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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