A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998715



Internal ID19158251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117211492..117373492hg38UCSC Ensembl
Innerchr2:117969068..118131068hg19UCSC Ensembl
Innerchr2:117685538..117847538hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38162001
hg19162001
hg18162001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4059n100
Supporting Variantsnssv3580679, nssv3580680, nssv3580681
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)nsv998715
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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