A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005887



Internal ID19095104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207476490..207495060hg38UCSC Ensembl
Innerchr2:208341214..208359784hg19UCSC Ensembl
Innerchr2:208049459..208068029hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3818571
hg1918571
hg1818571
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4158n100
Supporting Variantsnssv3585594, nssv3585593
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)nsv1005887
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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