A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv718989



Internal ID15666259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89011283..89012655hg38UCSC Ensembl
Innerchr1:89476966..89478338hg19UCSC Ensembl
Innerchr1:89249554..89250926hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381373
hg191373
hg181373
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546789
Supporting Variants
Samples
Known GenesGBP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv718989
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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