A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006401



Internal ID19095618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:221758955..222188347hg38UCSC Ensembl
Innerchr2:222623675..223053066hg19UCSC Ensembl
Innerchr2:222331919..222761310hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38429393
hg19429392
hg18429392
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586823
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006401
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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