A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv729689



Internal ID16023645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179989674..180102852hg38UCSC Ensembl
Innerchr1:179958809..180071987hg19UCSC Ensembl
Innerchr1:178225432..178338610hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38113179
hg19113179
hg18113179
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548343
Supporting Variants
Samples
Known GenesCEP350
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv729689
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