A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006494



Internal ID19095711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196814484..196843388hg38UCSC Ensembl
Innerchr1:196783614..196812518hg19UCSC Ensembl
Innerchr1:195050237..195079141hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3828905
hg1928905
hg1828905
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv542n100
Supporting Variantsnssv3490916, nssv3705435, nssv3500659, nssv3501602, nssv3488325, nssv3496124, nssv3486244, nssv3490170, nssv3489363
Samples
Known GenesCFHR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006494
Frequency
Sample Size11257
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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