A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3507088



Internal ID18458683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46526513..47008602hg38UCSC Ensembl
Innerchr10:46543845..47047587hg19UCSC Ensembl
Innerchr10:45963851..46467593hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38482090
hg19503743
hg18503743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1039126
Supporting Variants
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)nssv3507088
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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