A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546096



Internal ID16333505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40881556..40908771hg38UCSC Ensembl
Innerchr1:41347228..41374443hg19UCSC Ensembl
Innerchr1:41119815..41147030hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3827216
hg1927216
hg1827216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv248n54
Supporting Variantsnssv1173830, nssv1173824, nssv1173826, nssv1173827, nssv1173825, nssv712645, nssv1173823, nssv1173828, nssv1173831, nssv1173829, nssv712644
SamplesNINDS_238, NINDS_18, HGDP00614, 1780862443_A, 1780862346_A, 1798860336_A, 1780862125_A, 1798860192_A, HGDP01153
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546096
Frequency
Sample Size17421
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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