A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610988



Internal ID16398397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378656..39386523hg38UCSC Ensembl
Innerchr8:39236175..39244042hg19UCSC Ensembl
Innerchr8:39355332..39363199hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg387868
hg197868
hg187868
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12099n54
Supporting Variantsnssv1110459, nssv1110458
Samples
Known GenesADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610988
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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