A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011223



Internal ID18753757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150256810..150306949hg38UCSC Ensembl
Innerchr1:150229205..150279380hg19UCSC Ensembl
Innerchr1:148495829..148546004hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3850140
hg1950176
hg1850176
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3490981
Samples
Known GenesAPH1A, C1orf51, C1orf54, CA14, MRPS21
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011223
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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