A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549199



Internal ID15989922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216211566..216641360hg38UCSC Ensembl
Innerchr1:216384908..216814702hg19UCSC Ensembl
Innerchr1:214451531..214881325hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38429795
hg19429795
hg18429795
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174046
SamplesHGDP00823
Known GenesESRRG, USH2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549199
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