A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998204



Internal ID19157741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113266340..113317869hg38UCSC Ensembl
Innerchr2:114023917..114075446hg19UCSC Ensembl
Innerchr2:113740387..113791916hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3851530
hg1951530
hg1851530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580238
Samples
Known GenesPAX8, PAX8-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998204
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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