A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997864



Internal ID18810714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214605315..214820799hg38UCSC Ensembl
Innerchr1:214778658..214994142hg19UCSC Ensembl
Innerchr1:212845281..213060765hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38215485
hg19215485
hg18215485
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv574n100
Supporting Variantsnssv3485650
Samples
Known GenesCENPF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997864
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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