A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612818



Internal ID16400227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143582129..143640022hg38UCSC Ensembl
Innerchr8:144664299..144722192hg19UCSC Ensembl
Innerchr8:144735442..144793335hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3857894
hg1957894
hg1857894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12419n54
Supporting Variantsnssv1125495
Samples
Known GenesEEF1D, PYCRL, TIGD5, TSTA3, ZNF623
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612818
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