A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007027



Internal ID19096245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40400335..40422776hg38UCSC Ensembl
Innerchr2:40627475..40649916hg19UCSC Ensembl
Innerchr2:40480979..40503420hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3822442
hg1922442
hg1822442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581486
Samples
Known GenesSLC8A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007027
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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