A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004417



Internal ID18746948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:23277306..23347931hg38UCSC Ensembl
Innerchr3:23318797..23389422hg19UCSC Ensembl
Innerchr3:23293801..23364426hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3870626
hg1970626
hg1870626
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3589495
Samples
Known GenesMIR548AC, UBE2E2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004417
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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