A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042761



Internal ID18785292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46469221..47024352hg38UCSC Ensembl
Innerchr10:46527665..47080230hg19UCSC Ensembl
Innerchr10:45947671..46500236hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38555132
hg19552566
hg18552566
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv734n100
Supporting Variantsnssv3512548
Samples
Known GenesBMS1P1, BMS1P5, FAM35BP, FRMPD2P1, GLUD1P7, GPRIN2, PTPN20A, PTPN20B, SYT15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042761
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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