A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044971



Internal ID18787502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:71272698..71673682hg38UCSC Ensembl
Innerchr10:73032455..73433439hg19UCSC Ensembl
Innerchr10:72702461..73103445hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38400985
hg19400985
hg18400985
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3706106
Samples
Known GenesCDH23, MIR6797, SLC29A3, UNC5B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044971
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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