A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000306



Internal ID18742837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3031140..3164376hg38UCSC Ensembl
Innerchr1:2947704..3080940hg19UCSC Ensembl
Innerchr1:2937564..3070800hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38133237
hg19133237
hg18133237
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3465345
Samples
Known GenesLINC00982, MIR4251, PRDM16
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000306
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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