A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611048



Internal ID16398457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39416742..39499982hg38UCSC Ensembl
Innerchr8:39274261..39357501hg19UCSC Ensembl
Innerchr8:39393418..39476658hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3883241
hg1983241
hg1883241
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1111184, nssv1111185
Samples
Known GenesADAM3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611048
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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