A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548298



Internal ID15989021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179407761..179467153hg38UCSC Ensembl
Innerchr1:179376896..179436288hg19UCSC Ensembl
Innerchr1:177643519..177702911hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3859393
hg1959393
hg1859393
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729324, nssv729323
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548298
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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