A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001866



Internal ID18744397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40189233..40206280hg38UCSC Ensembl
Innerchr2:40416373..40433420hg19UCSC Ensembl
Innerchr2:40269877..40286924hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3817048
hg1917048
hg1817048
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3725971, nssv3725973, nssv3725969, nssv3725970, nssv3725972
Samples
Known GenesSLC8A1, SLC8A1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001866
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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