A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004680



Internal ID19093897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130035080..130092500hg38UCSC Ensembl
Innerchr3:129753923..129811343hg19UCSC Ensembl
Innerchr3:131236613..131294033hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3857421
hg1957421
hg1857421
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4869n100
Supporting Variantsnssv3603630, nssv3736450, nssv3603629, nssv3603628, nssv3603627, nssv3603631, nssv3603626
Samples
Known GenesALG1L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004680
Frequency
Sample Size11257
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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