A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047983



Internal ID18790514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:68414663..68849311hg38UCSC Ensembl
Innerchr10:70174420..70609067hg19UCSC Ensembl
Innerchr10:69844426..70279073hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38434649
hg19434648
hg18434648
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3514502
Samples
Known GenesCCAR1, DNA2, SLC25A16, SNORD98, STOX1, TET1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047983
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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