A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998255



Internal ID19157792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228656037..228783455hg38UCSC Ensembl
Innerchr1:228791784..228919202hg19UCSC Ensembl
Innerchr1:226858407..226985825hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38127419
hg19127419
hg18127419
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3705522
Samples
Known GenesRHOU
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998255
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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