A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040004



Internal ID18782535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:43083220..43095425hg38UCSC Ensembl
Innerchr10:43578668..43590873hg19UCSC Ensembl
Innerchr10:42898674..42910879hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3812206
hg1912206
hg1812206
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv727n100
Supporting Variantsnssv3504766, nssv3517061, nssv3510352
Samples
Known GenesRET
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040004
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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