A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549142



Internal ID15989865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212284975..212286281hg38UCSC Ensembl
Innerchr1:212458317..212459623hg19UCSC Ensembl
Innerchr1:210524940..210526246hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381307
hg191307
hg181307
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv805n54
Supporting Variantsnssv736848, nssv736846, nssv736847, nssv736851, nssv736849, nssv736850
Samples
Known GenesPPP2R5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549142
Frequency
Sample Size17421
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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