A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584606



Internal ID16025329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:227193300..227199263hg38UCSC Ensembl
Innerchr2:228058016..228063979hg19UCSC Ensembl
Innerchr2:227766260..227772223hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg385964
hg195964
hg185964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933316
Samples
Known GenesCOL4A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584606
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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