A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054619



Internal ID18797150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46526513..47024352hg38UCSC Ensembl
Innerchr10:46527665..47055642hg19UCSC Ensembl
Innerchr10:45947671..46475648hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38497840
hg19527978
hg18527978
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv734n100
Supporting Variantsnssv3513772, nssv3707819, nssv3513412
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)nsv1054619
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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