A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3595246



Internal ID18546841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47013276..47092190hg38UCSC Ensembl
Innerchr3:47054766..47133680hg19UCSC Ensembl
Innerchr3:47029770..47108684hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3878915
hg1978915
hg1878915
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv997261
Supporting Variants
Samples
Known GenesNRADDP, SETD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3595246
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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