A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000778



Internal ID19089995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105895390..105933013hg38UCSC Ensembl
Innerchr2:106511846..106549469hg19UCSC Ensembl
Innerchr2:105878278..105915901hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3837624
hg1937624
hg1837624
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4033n100
Supporting Variantsnssv3580110
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000778
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