A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012317



Internal ID18754850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:1428027..1519167hg38UCSC Ensembl
Innerchr2:1431799..1522939hg19UCSC Ensembl
Innerchr2:1410806..1501946hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3891141
hg1991141
hg1891141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3701n100
Supporting Variantsnssv3571282
Samples
Known GenesTPO
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012317
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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