A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548459



Internal ID16335868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188283565..188521083hg38UCSC Ensembl
Innerchr1:188252696..188490214hg19UCSC Ensembl
Innerchr1:186519319..186756837hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38237519
hg19237519
hg18237519
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv730672
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548459
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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