A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006749



Internal ID19095967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188669592..188732470hg38UCSC Ensembl
Innerchr1:188638723..188701601hg19UCSC Ensembl
Innerchr1:186905346..186968224hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3862879
hg1962879
hg1862879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3491641
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006749
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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