A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047034



Internal ID18789565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:74996364..75081593hg38UCSC Ensembl
Innerchr10:76756122..76841351hg19UCSC Ensembl
Innerchr10:76426128..76511357hg18UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg3885230
hg1985230
hg1885230
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv926n100
Supporting Variantsnssv3516808
Samples
Known GenesDUPD1, KAT6B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047034
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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