A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002102



Internal ID19091319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197187319..197237155hg38UCSC Ensembl
Innerchr3:196914190..196964026hg19UCSC Ensembl
Innerchr3:198398587..198448423hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3849837
hg1949837
hg1849837
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5039n100
Supporting Variantsnssv3617007
Samples
Known GenesDLG1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002102
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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