A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608230



Internal ID16048953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:113941914..114186383hg38UCSC Ensembl
Innerchr7:113581969..113826438hg19UCSC Ensembl
Innerchr7:113369205..113613674hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38244470
hg19244470
hg18244470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1092750
Samples
Known GenesFOXP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608230
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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