A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548077



Internal ID15988800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161828449..162097657hg38UCSC Ensembl
Innerchr1:161798239..162067447hg19UCSC Ensembl
Innerchr1:160064863..160334071hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38269209
hg19269209
hg18269209
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173217
SamplesHGDP00458
Known GenesATF6, NOS1AP, OLFML2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548077
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