A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549385



Internal ID15990108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234608602..234611240hg38UCSC Ensembl
Innerchr1:234744348..234746986hg19UCSC Ensembl
Innerchr1:232810971..232813609hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg382639
hg192639
hg182639
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv862n54
Supporting Variantsnssv738172, nssv738171, nssv738174, nssv738169, nssv738170, nssv738173, nssv738168
Samples
Known GenesIRF2BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549385
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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