A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548420



Internal ID16335829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:187544149..187630305hg38UCSC Ensembl
Innerchr1:187513281..187599437hg19UCSC Ensembl
Innerchr1:185779904..185866060hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3886157
hg1986157
hg1886157
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173931
SamplesHGDP00526
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548420
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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