A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv734009



Internal ID16027965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196787170..196874041hg38UCSC Ensembl
Innerchr1:196756300..196843171hg19UCSC Ensembl
Innerchr1:195022923..195109794hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3886872
hg1986872
hg1886872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548799
Supporting Variants
Samples
Known GenesCFHR1, CFHR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv734009
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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