A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050384



Internal ID18792915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46472778..46878295hg38UCSC Ensembl
Innerchr10:46674168..47076675hg19UCSC Ensembl
Innerchr10:46094174..46496681hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38405518
hg19402508
hg18402508
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv743n100
Supporting Variantsnssv3520835
Samples
Known GenesBMS1P1, BMS1P5, FAM35BP, FRMPD2P1, 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)nsv1050384
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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