A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048873



Internal ID18791404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46549030..46861290hg38UCSC Ensembl
Innerchr10:46691159..47000587hg19UCSC Ensembl
Innerchr10:46111165..46420593hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38312261
hg19309429
hg18309429
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv739n100
Supporting Variantsnssv3519687
Samples
Known GenesBMS1P1, BMS1P5, FAM35BP, GLUD1P7, GPRIN2, SYT15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048873
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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