A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548770



Internal ID16336179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196753917..196818812hg38UCSC Ensembl
Innerchr1:196723047..196787942hg19UCSC Ensembl
Innerchr1:194989670..195054565hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3864896
hg1964896
hg1864896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv736n54
Supporting Variantsnssv733968
Samples
Known GenesCFHR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548770
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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