A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547536



Internal ID15988259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111283987..111317290hg38UCSC Ensembl
Innerchr1:111826609..111859912hg19UCSC Ensembl
Innerchr1:111628132..111661435hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3833304
hg1933304
hg1833304
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv722429, nssv722428
Samples
Known GenesCHIA, CHIAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547536
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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