A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518750



Internal ID15099357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:218751245..218804652hg38UCSC Ensembl
Innerchr2:219615968..219669375hg19UCSC Ensembl
Innerchr2:219324212..219377619hg18UCSC Ensembl
Innerchr2:219441473..219494880hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3853408
hg1953408
hg1853408
hg1753408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696199
Samples
Known GenesCYP27A1, TTLL4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518750
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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