A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005384



Internal ID19094601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196820420..196947657hg38UCSC Ensembl
Innerchr1:196789550..196916787hg19UCSC Ensembl
Innerchr1:195056173..195183410hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38127238
hg19127238
hg18127238
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv539n100
Supporting Variantsnssv3490597
Samples
Known GenesCFHR1, CFHR2, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005384
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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