A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518312



Internal ID15445605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46997788..47034998hg38UCSC Ensembl
Innerchr2:47224927..47262137hg19UCSC Ensembl
Innerchr2:47078431..47115641hg18UCSC Ensembl
Innerchr2:47136578..47173788hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3837211
hg1937211
hg1837211
hg1737211
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695743
Samples
Known GenesTTC7A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518312
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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