A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012939



Internal ID19102156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:57187350..57234405hg38UCSC Ensembl
Innerchr4:58053516..58100571hg19UCSC Ensembl
Innerchr4:57748273..57795328hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3847056
hg1947056
hg1847056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5217n100
Supporting Variantsnssv3626488, nssv3739485, nssv3626485, nssv3626482, nssv3626486, nssv3626478, nssv3626483, nssv3626489, nssv3626481, nssv3626480, nssv3626479, nssv3626477, nssv3626487, nssv3626476, nssv3626475, nssv3626484, nssv3739484
Samples
Known GenesIGFBP7-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012939
Frequency
Sample Size11257
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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