A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549528



Internal ID15990251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246139826..246545165hg38UCSC Ensembl
Innerchr1:246303128..246708467hg19UCSC Ensembl
Innerchr1:244369751..244775090hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38405340
hg19405340
hg18405340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739519
Samples
Known GenesLOC255654, SMYD3, TFB2M
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549528
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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