A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001487



Internal ID19090704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196829423..196855458hg38UCSC Ensembl
Innerchr1:196798553..196824588hg19UCSC Ensembl
Innerchr1:195065176..195091211hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3826036
hg1926036
hg1826036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv550n100
Supporting Variantsnssv3495801, nssv3501780
Samples
Known GenesCFHR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001487
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer