A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001847



Internal ID19091064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12269..43670hg38UCSC Ensembl
Innerchr4:12269..43671hg19UCSC Ensembl
Innerchr4:2269..33671hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3831402
hg1931403
hg1831403
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5053n100
Supporting Variantsnssv3617123, nssv3617122, nssv3617121
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)nsv1001847
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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