A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548172



Internal ID16335581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169263603..169269949hg38UCSC Ensembl
Innerchr1:169232841..169239187hg19UCSC Ensembl
Innerchr1:167499465..167505811hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg386347
hg196347
hg186347
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv628n54
Supporting Variantsnssv728705, nssv728706
Samples
Known GenesNME7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548172
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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