A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055017



Internal ID18797548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46486346..46878295hg38UCSC Ensembl
Innerchr10:46674168..47063106hg19UCSC Ensembl
Innerchr10:46094174..46483112hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38391950
hg19388939
hg18388939
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv743n100
Supporting Variantsnssv3522692, nssv3516538, nssv3506538
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)nsv1055017
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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