A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546098



Internal ID16333507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40881556..40918166hg38UCSC Ensembl
Innerchr1:41347228..41383838hg19UCSC Ensembl
Innerchr1:41119815..41156425hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3836611
hg1936611
hg1836611
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv249n54
Supporting Variantsnssv712647, nssv1173834, nssv712646
Samples1780862551_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546098
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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