A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3685514



Internal ID18637109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:26480635..26505511hg38UCSC Ensembl
Innerchr8:26338151..26363027hg19UCSC Ensembl
Innerchr8:26394068..26418944hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3824877
hg1924877
hg1824877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1019057
Supporting Variants
Samples
Known GenesPNMA2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3685514
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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