A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058072



Internal ID18800603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:14000188..14195850hg38UCSC Ensembl
Innerchr21:15372509..15568171hg19UCSC Ensembl
Innerchr21:14294380..14490042hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38195663
hg19195663
hg18195663
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586453
Samples
Known GenesLIPI
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058072
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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