A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606230



Internal ID16046953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:12476544..12524502hg38UCSC Ensembl
Innerchr7:12516170..12564128hg19UCSC Ensembl
Innerchr7:12482695..12530653hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3847959
hg1947959
hg1847959
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11208n54
Supporting Variantsnssv1155292
SamplesHGDP00993
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606230
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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