A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010015



Internal ID19099234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196780039..196843388hg38UCSC Ensembl
Innerchr1:196749169..196812518hg19UCSC Ensembl
Innerchr1:195015792..195079141hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3863350
hg1963350
hg1863350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv532n100
Supporting Variantsnssv3489732
Samples
Known GenesCFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010015
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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