A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545117



Internal ID15985840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3167623..3169900hg38UCSC Ensembl
Innerchr1:3084187..3086464hg19UCSC Ensembl
Innerchr1:3074047..3076324hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg382278
hg192278
hg182278
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708831, nssv708828, nssv708833, nssv708834, nssv708830, nssv708832, nssv708829
Samples
Known GenesPRDM16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545117
Frequency
Sample Size17421
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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