A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003687



Internal ID19092905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91844970..92098169hg38UCSC Ensembl
Innerchr2:92032996..92286195hg19UCSC Ensembl
Innerchr2:91396723..91649922hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38253200
hg19253200
hg18253200
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4005n100
Supporting Variantsnssv3579536
Samples
Known GenesACTR3BP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003687
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