A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581497



Internal ID16368906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39924742..39968408hg38UCSC Ensembl
Innerchr2:40151882..40195548hg19UCSC Ensembl
Innerchr2:40005386..40049052hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3843667
hg1943667
hg1843667
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6793n54
Supporting Variantsnssv1151043
SamplesHGDP00428
Known GenesSLC8A1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581497
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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