A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151132



Internal ID15509293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205627674..205747861hg38UCSC Ensembl
Innerchr2:206492398..206612585hg19UCSC Ensembl
Innerchr2:206200643..206320830hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38120188
hg19120188
hg18120188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584246
Supporting Variants
Samples1798860279_A
Known GenesNRP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151132
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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