A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546137



Internal ID16333546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43871718..43877501hg38UCSC Ensembl
Innerchr1:44337390..44343173hg19UCSC Ensembl
Innerchr1:44109977..44115760hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg385784
hg195784
hg185784
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv255n54
Supporting Variantsnssv712868, nssv712867, nssv712869
Samples
Known GenesST3GAL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546137
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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