A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012345



Internal ID19101563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196830146..196913266hg38UCSC Ensembl
Innerchr1:196799276..196882396hg19UCSC Ensembl
Innerchr1:195065899..195149019hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3883121
hg1983121
hg1883121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv541n100
Supporting Variantsnssv3495544
Samples
Known GenesCFHR1, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012345
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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