A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151043



Internal ID15873895
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 StatusS
Merged Variantsnsv581497
Supporting Variants
SamplesHGDP00428
Known GenesSLC8A1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151043
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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