A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549180



Internal ID15989903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214481622..214514382hg38UCSC Ensembl
Innerchr1:214654965..214687725hg19UCSC Ensembl
Innerchr1:212721588..212754348hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3832761
hg1932761
hg1832761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174043
SamplesHGDP00807
Known GenesPTPN14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549180
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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