A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997721



Internal ID18810571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208363948..208382484hg38UCSC Ensembl
Innerchr2:209228673..209247209hg19UCSC Ensembl
Innerchr2:208936918..208955454hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3818537
hg1918537
hg1818537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4160n100
Supporting Variantsnssv3585599, nssv3585598
Samples
Known GenesPTH2R
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997721
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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