A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014986



Internal ID19104203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207475081..207494824hg38UCSC Ensembl
Innerchr2:208339805..208359548hg19UCSC Ensembl
Innerchr2:208048050..208067793hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3819744
hg1919744
hg1819744
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4156n100
Supporting Variantsnssv3585576, nssv3585577
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)nsv1014986
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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