A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544954



Internal ID15985677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1139244..1186414hg38UCSC Ensembl
Innerchr1:1074624..1121794hg19UCSC Ensembl
Innerchr1:1064487..1111657hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3847171
hg1947171
hg1847171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708516
Samples
Known GenesLOC254099, MIR200A, MIR200B, MIR429, TTLL10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544954
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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