A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007752



Internal ID19096971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196713216..196832930hg38UCSC Ensembl
Innerchr1:196682346..196802060hg19UCSC Ensembl
Innerchr1:194948969..195068683hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38119715
hg19119715
hg18119715
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv503n100
Supporting Variantsnssv3494119, nssv3500313
Samples
Known GenesCFH, CFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007752
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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