A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv733936



Internal ID16027892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196679339..196682935hg38UCSC Ensembl
Innerchr1:196648469..196652065hg19UCSC Ensembl
Innerchr1:194915092..194918688hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383597
hg193597
hg183597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548743
Supporting Variants
Samples
Known GenesCFH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv733936
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