A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047173



Internal ID18789704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46526513..46861290hg38UCSC Ensembl
Innerchr10:46691159..47025092hg19UCSC Ensembl
Innerchr10:46111165..46445098hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38334778
hg19333934
hg18333934
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv739n100
Supporting Variantsnssv3516942
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)nsv1047173
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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