A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1083226



Internal ID15936412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44107701..44111852hg38UCSC Ensembl
Innerchr7:44147300..44151451hg19UCSC Ensembl
Innerchr7:44113825..44117976hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg384152
hg194152
hg184152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv606747
Supporting Variants
Samples
Known GenesAEBP1, MIR4649
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1083226
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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