A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250379



Internal ID21303618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196758720..196940515hg38UCSC Ensembl
Outerchr1:196745743..196944667hg38UCSC Ensembl
Innerchr1:196727850..196909645hg19UCSC Ensembl
Outerchr1:196714873..196913797hg19UCSC Ensembl
Innerchr1:194994473..195176268hg18UCSC Ensembl
Outerchr1:194981496..195180420hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38198925
hg19198925
hg18198925
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170002
Supporting Variants
SamplesMLY_8
Known GenesCFH, CFHR1, CFHR2, CFHR3, CFHR4
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250379
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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