A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580969



Internal ID16368378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:10893441..10941519hg38UCSC Ensembl
Innerchr2:11033567..11081645hg19UCSC Ensembl
Innerchr2:10951018..10999096hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3848079
hg1948079
hg1848079
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv903717
Samples
Known GenesKCNF1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580969
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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