A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1125824



Internal ID15632324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144502322..144516801hg38UCSC Ensembl
Innerchr8:145727705..145742185hg19UCSC Ensembl
Innerchr8:145698513..145712993hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3814480
hg1914481
hg1814481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612961
Supporting Variants
Samples
Known GenesGPT, MFSD3, RECQL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1125824
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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