A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548810



Internal ID16336219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196801408..196835130hg38UCSC Ensembl
Innerchr1:196770538..196804260hg19UCSC Ensembl
Innerchr1:195037161..195070883hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3833723
hg1933723
hg1833723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv746n54
Supporting Variantsnssv734026, nssv734025
Samples
Known GenesCFHR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548810
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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