A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028669



Internal ID19117887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76315772..76347773hg38UCSC Ensembl
Innerchr5:75611597..75643598hg19UCSC Ensembl
Innerchr5:75647353..75679354hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3832002
hg1932002
hg1832002
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5701n100
Supporting Variantsnssv3747317
Samples
Known GenesSV2C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028669
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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