A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3486332



Internal ID19073973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:217180753..217245390hg38UCSC Ensembl
Innerchr1:217354095..217418732hg19UCSC Ensembl
Innerchr1:215420718..215485355hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3864638
hg1964638
hg1864638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003559
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3486332
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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