A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548253



Internal ID15988976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:177837703..177982850hg38UCSC Ensembl
Innerchr1:177806838..177951985hg19UCSC Ensembl
Innerchr1:176073461..176218608hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38145148
hg19145148
hg18145148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729116
Samples
Known GenesSEC16B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548253
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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