A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600831



Internal ID16041554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:2803955..2843101hg38UCSC Ensembl
Innerchr6:2804189..2843335hg19UCSC Ensembl
Innerchr6:2749188..2788334hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3839147
hg1939147
hg1839147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1048671
Samples
Known GenesSERPINB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600831
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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