A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3757500



Internal ID19055781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:140625507..140736356hg38UCSC Ensembl
Innerchr8:141635606..141746455hg19UCSC Ensembl
Innerchr8:141704788..141815637hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38110850
hg19110850
hg18110850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1025478
Supporting Variants
Samples
Known GenesAGO2, PTK2, RNU6-31P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3757500
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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