A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv724513



Internal ID15671783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152583609..152797970hg38UCSC Ensembl
Innerchr1:152556085..152770446hg19UCSC Ensembl
Innerchr1:150822709..151037070hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38214362
hg19214362
hg18214362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547891
Supporting Variants
Samples
Known GenesC1orf68, KPRP, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE4A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv724513
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