A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012164



Internal ID18754700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186354735..186596863hg38UCSC Ensembl
Innerchr1:186323867..186565995hg19UCSC Ensembl
Innerchr1:184590490..184832618hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38242129
hg19242129
hg18242129
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3492747
Samples
Known GenesC1orf27, MIR548F1, OCLM, PDC, TPR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012164
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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