A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549381



Internal ID15990104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234608602..234610377hg38UCSC Ensembl
Innerchr1:234744348..234746123hg19UCSC Ensembl
Innerchr1:232810971..232812746hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg381776
hg191776
hg181776
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv861n54
Supporting Variantsnssv738160, nssv738161, nssv738159
Samples
Known GenesIRF2BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549381
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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