A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3516808



Internal ID18468403
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 StatusS
Merged Variantsnsv1047034
Supporting Variants
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)nssv3516808
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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