A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006550



Internal ID18749081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39937629..39982796hg38UCSC Ensembl
Innerchr2:40164769..40209936hg19UCSC Ensembl
Innerchr2:40018273..40063440hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3845168
hg1945168
hg1845168
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581481
Samples
Known GenesSLC8A1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006550
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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