A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003423



Internal ID18745954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130018540..130188415hg38UCSC Ensembl
Innerchr3:129737383..129907258hg19UCSC Ensembl
Innerchr3:131220073..131389948hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38169876
hg19169876
hg18169876
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4861n100
Supporting Variantsnssv3736444
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)nsv1003423
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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