A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011423



Internal ID19100640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178219680..178301433hg38UCSC Ensembl
Innerchr2:179084407..179166160hg19UCSC Ensembl
Innerchr2:178792653..178874406hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3881754
hg1981754
hg1881754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729277
Samples
Known GenesOSBPL6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011423
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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