A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042820



Internal ID18785351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46568009..46878295hg38UCSC Ensembl
Innerchr10:46674168..46981608hg19UCSC Ensembl
Innerchr10:46094174..46401614hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38310287
hg19307441
hg18307441
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3513014, nssv3517230, nssv3511232, nssv3507053, nssv3515412, nssv3504840, nssv3511370, nssv3522592, nssv3522108, nssv3508207
Samples
Known GenesBMS1P1, BMS1P5, FAM35BP, FRMPD2P1, GLUD1P7, SYT15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042820
Frequency
Sample Size29084
Observed Gain5
Observed Loss5
Observed Complex0
Frequencyn/a


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