A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011780



Internal ID18754314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:186709551..186806973hg38UCSC Ensembl
Innerchr3:186427340..186524762hg19UCSC Ensembl
Innerchr3:187910034..188007456hg18UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3897423
hg1997423
hg1897423
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5005n100
Supporting Variantsnssv3615027
Samples
Known GenesEIF4A2, KNG1, MIR1248, RFC4, SNORA4, SNORA63, SNORA81, SNORD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011780
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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