A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022749



Internal ID18765283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17766079..17951892hg38UCSC Ensembl
Innerchr8:17623588..17809401hg19UCSC Ensembl
Innerchr8:17667868..17853681hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38185814
hg19185814
hg18185814
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7121n100
Supporting Variantsnssv3684180
Samples
Known GenesFGL1, MTUS1, PCM1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022749
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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