A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008190



Internal ID19097409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40202302..40279632hg38UCSC Ensembl
Innerchr2:40429442..40506772hg19UCSC Ensembl
Innerchr2:40282946..40360276hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3877331
hg1977331
hg1877331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3725974
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)nsv1008190
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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