A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004382



Internal ID19093600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:57185470..57236387hg38UCSC Ensembl
Innerchr4:58051636..58102553hg19UCSC Ensembl
Innerchr4:57746393..57797310hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3850918
hg1950918
hg1850918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5217n100
Supporting Variantsnssv3626471, nssv3626469, nssv3626470
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)nsv1004382
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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