A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546095



Internal ID16333504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40881556..40908478hg38UCSC Ensembl
Innerchr1:41347228..41374150hg19UCSC Ensembl
Innerchr1:41119815..41146737hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3826923
hg1926923
hg1826923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv248n54
Supporting Variantsnssv1173820, nssv1173822, nssv1173821
SamplesNINDS_98, HGDP00319, 1780854436_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546095
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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