A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547567



Internal ID15988290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:112770941..112841393hg38UCSC Ensembl
Innerchr1:113313563..113384015hg19UCSC Ensembl
Innerchr1:113115086..113185538hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3870453
hg1970453
hg1870453
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173119
SamplesHGDP00617
Known GenesLOC100996702
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547567
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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