A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545485



Internal ID15986208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12806763..12854043hg38UCSC Ensembl
Innerchr1:12866899..12913896hg19UCSC Ensembl
Innerchr1:12789486..12836483hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3847281
hg1946998
hg1846998
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv123n54
Supporting Variantsnssv710117, nssv1173742, nssv1173743
SamplesHGDP00694, HGDP00021
Known GenesHNRNPCL1, LOC649330, PRAMEF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545485
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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