A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008469



Internal ID19097687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186202242..186257370hg38UCSC Ensembl
Innerchr1:186171374..186226502hg19UCSC Ensembl
Innerchr1:184437997..184493125hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3855129
hg1955129
hg1855129
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv480n100
Supporting Variantsnssv3496670
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)nsv1008469
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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