A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548835



Internal ID16336244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196832482..196928264hg38UCSC Ensembl
Innerchr1:196801612..196897394hg19UCSC Ensembl
Innerchr1:195068235..195164017hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3895783
hg1995783
hg1895783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv751n54
Supporting Variantsnssv734053
Samples
Known GenesCFHR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548835
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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