A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005114



Internal ID19094331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130073920..130100783hg38UCSC Ensembl
Innerchr3:129792763..129819626hg19UCSC Ensembl
Innerchr3:131275453..131302316hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3826864
hg1926864
hg1826864
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4893n100
Supporting Variantsnssv3607125, nssv3607124, nssv3607121, nssv3607122, nssv3607119, nssv3607120, nssv3607123, nssv3607118
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)nsv1005114
Frequency
Sample Size11257
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


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