A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv906892



Internal ID15854162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40046763..40232505hg38UCSC Ensembl
Innerchr2:40273903..40459645hg19UCSC Ensembl
Innerchr2:40127407..40313149hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38185743
hg19185743
hg18185743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581502
Supporting Variants
Samples
Known GenesSLC8A1, SLC8A1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv906892
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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