A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547338



Internal ID15988061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:107776457..108220679hg38UCSC Ensembl
Innerchr1:108319079..108763301hg19UCSC Ensembl
Innerchr1:108120602..108564824hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38444223
hg19444223
hg18444223
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv469n54
Supporting Variantsnssv720734
Samples
Known GenesMIR7852, SLC25A24, VAV3, VAV3-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547338
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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