A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004420



Internal ID19093638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12269..43879hg38UCSC Ensembl
Innerchr4:12269..43880hg19UCSC Ensembl
Innerchr4:2269..33880hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3831611
hg1931612
hg1831612
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5053n100
Supporting Variantsnssv3619201, nssv3619194, nssv3619195, nssv3619198, nssv3619196, nssv3737916, nssv3617135, nssv3617130, nssv3617125, nssv3617134, nssv3617126, nssv3617127, nssv3619202, nssv3617124, nssv3617131, nssv3619199, nssv3619200, nssv3617128, nssv3617136, nssv3737917, nssv3619197, nssv3617133, nssv3617129, nssv3617132
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)nsv1004420
Frequency
Sample Size11257
Observed Gain21
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer