A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548805



Internal ID16336214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196798857..196831912hg38UCSC Ensembl
Innerchr1:196767987..196801042hg19UCSC Ensembl
Innerchr1:195034610..195067665hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3833056
hg1933056
hg1833056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv746n54
Supporting Variantsnssv734019, nssv734018
Samples
Known GenesCFHR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548805
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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