A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998587



Internal ID18811437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:95504810..95712480hg38UCSC Ensembl
Innerchr2:96170558..96378228hg19UCSC Ensembl
Innerchr2:95534285..95741955hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38207671
hg19207671
hg18207671
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3579546
Samples
Known GenesTRIM43
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998587
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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