A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002459



Internal ID19091676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196745680..196792924hg38UCSC Ensembl
Innerchr1:196714810..196762054hg19UCSC Ensembl
Innerchr1:194981433..195028677hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3847245
hg1947245
hg1847245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv512n100
Supporting Variantsnssv3501475
Samples
Known GenesCFH, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002459
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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