A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv933278



Internal ID15880548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:226325601..227420413hg38UCSC Ensembl
Innerchr2:227190317..228285129hg19UCSC Ensembl
Innerchr2:226898561..227993373hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg381094813
hg191094813
hg181094813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584594
Supporting Variants
Samples
Known GenesCOL4A3, COL4A4, IRS1, LOC654841, MFF, MIR5702, RHBDD1, TM4SF20
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv933278
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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