A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011066



Internal ID18753600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230940432..231242850hg38UCSC Ensembl
Innerchr1:231076178..231378596hg19UCSC Ensembl
Innerchr1:229142801..229445219hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38302419
hg19302419
hg18302419
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3494295
Samples
Known GenesARV1, C1orf131, FAM89A, GNPAT, LOC149373, MIR1182, TRIM67, TTC13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011066
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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