A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010068



Internal ID19099287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43262141..43328666hg38UCSC Ensembl
Innerchr2:43489280..43555805hg19UCSC Ensembl
Innerchr2:43342784..43409309hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3866526
hg1966526
hg1866526
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3797n100
Supporting Variantsnssv3581575
Samples
Known GenesTHADA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010068
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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