A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004581



Internal ID18747112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54995442..55038977hg38UCSC Ensembl
Innerchr1:55461115..55504650hg19UCSC Ensembl
Innerchr1:55233703..55277238hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3843536
hg1943536
hg1843536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv167n100
Supporting Variantsnssv3470045
Samples
Known GenesBSND
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004581
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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