A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000888



Internal ID18743419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12269..80405hg38UCSC Ensembl
Innerchr4:12269..80298hg19UCSC Ensembl
Innerchr4:2269..70298hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3868137
hg1968030
hg1868030
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5057n100
Supporting Variantsnssv3615166, nssv3615167, nssv3615169, nssv3615164, nssv3615163, nssv3615170, nssv3615172, nssv3615165, nssv3615171, nssv3615168
Samples
Known GenesZNF595, ZNF718
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000888
Frequency
Sample Size29084
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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