A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007581



Internal ID19096800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130067085..130100783hg38UCSC Ensembl
Innerchr3:129785928..129819626hg19UCSC Ensembl
Innerchr3:131268618..131302316hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3833699
hg1933699
hg1833699
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4891n100
Supporting Variantsnssv3606842, nssv3606828, nssv3606847, nssv3606845, nssv3606846, nssv3606840, nssv3606837, nssv3606835, nssv3606841, nssv3606838, nssv3606832, nssv3606833, nssv3606834, nssv3606843, nssv3606836, nssv3606844, nssv3606830, nssv3606839, nssv3606829, nssv3606831
Samples
Known GenesALG1L2, FAM86HP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007581
Frequency
Sample Size11257
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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