A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548169



Internal ID16335578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169262975..169271276hg38UCSC Ensembl
Innerchr1:169232213..169240514hg19UCSC Ensembl
Innerchr1:167498837..167507138hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg388302
hg198302
hg188302
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv628n54
Supporting Variantsnssv728701
Samples
Known GenesNME7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548169
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer