A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548362



Internal ID15989085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182391034..182392101hg38UCSC Ensembl
Innerchr1:182360169..182361236hg19UCSC Ensembl
Innerchr1:180626792..180627859hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381068
hg191068
hg181068
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv658n54
Supporting Variantsnssv729742, nssv729741
Samples
Known GenesGLUL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548362
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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