A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012403



Internal ID19101620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186220873..186237056hg38UCSC Ensembl
Innerchr1:186190005..186206188hg19UCSC Ensembl
Innerchr1:184456628..184472811hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3816184
hg1916184
hg1816184
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3497193, nssv3498543, nssv3490062
Samples
Known GenesMIR548F1, RNU6-72P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012403
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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