A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024228



Internal ID18766761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2473547..3062661hg38UCSC Ensembl
Innerchr8:2330755..2920183hg19UCSC Ensembl
Innerchr8:2318162..2907590hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38589115
hg19589429
hg18589429
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6827n100
Supporting Variantsnssv3675282, nssv3675283
Samples
Known GenesCSMD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024228
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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