A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517875



Internal ID15098482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164624512..164821298hg38UCSC Ensembl
Innerchr2:165481022..165677808hg19UCSC Ensembl
Innerchr2:165189268..165386054hg18UCSC Ensembl
Innerchr2:165306529..165503315hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38196787
hg19196787
hg18196787
hg17196787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695281
Samples
Known GenesCOBLL1, SNORA70F
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517875
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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