A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012148



Internal ID19101366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88848330..89002373hg38UCSC Ensembl
Innerchr2:89147843..89301870hg19UCSC Ensembl
Innerchr2:88928958..89082985hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38154044
hg19154028
hg18154028
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3934n100
Supporting Variantsnssv3729801
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)nsv1012148
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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