A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548167



Internal ID16335576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169262975..169269949hg38UCSC Ensembl
Innerchr1:169232213..169239187hg19UCSC Ensembl
Innerchr1:167498837..167505811hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg386975
hg196975
hg186975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv628n54
Supporting Variantsnssv728698
Samples
Known GenesNME7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548167
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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