A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002645



Internal ID19091862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196745680..196832930hg38UCSC Ensembl
Innerchr1:196714810..196802060hg19UCSC Ensembl
Innerchr1:194981433..195068683hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3887251
hg1987251
hg1887251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv505n100
Supporting Variantsnssv3489948, nssv3501819
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)nsv1002645
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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