A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998839



Internal ID19158375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:125344583..125883705hg38UCSC Ensembl
Innerchr2:126102160..126641282hg19UCSC Ensembl
Innerchr2:125818630..126357752hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38539123
hg19539123
hg18539123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580714
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)nsv998839
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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