A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3725972



Internal ID18677567
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 StatusS
Merged Variantsnsv1001866
Supporting Variants
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)nssv3725972
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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