A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv934088



Internal ID16228044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240877905..240906723hg38UCSC Ensembl
Innerchr2:241817322..241846140hg19UCSC Ensembl
Innerchr2:241465995..241494813hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3828819
hg1928819
hg1828819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584886
Supporting Variants
Samples
Known GenesAGXT, C2orf54
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv934088
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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