A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997480



Internal ID19157016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196741937..196792960hg38UCSC Ensembl
Innerchr1:196711067..196762090hg19UCSC Ensembl
Innerchr1:194977690..195028713hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3851024
hg1951024
hg1851024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv506n100
Supporting Variantsnssv3704891, nssv3502262, nssv3483052, nssv3494004, nssv3488549, nssv3501320
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)nsv997480
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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