A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549393



Internal ID15990116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235395391..235463092hg38UCSC Ensembl
Innerchr1:235558706..235626406hg19UCSC Ensembl
Innerchr1:233625329..233693029hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3867702
hg1967701
hg1867701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174058
Samples1780854491_A
Known GenesB3GALNT2, TBCE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549393
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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