A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583674



Internal ID16371083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176305190..176391757hg38UCSC Ensembl
Innerchr2:177169918..177256485hg19UCSC Ensembl
Innerchr2:176878164..176964731hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3886568
hg1986568
hg1886568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150743
Samples1780862574_A
Known GenesMTX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583674
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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