A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004851



Internal ID18747382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225426438..225496482hg38UCSC Ensembl
Innerchr1:225614140..225684184hg19UCSC Ensembl
Innerchr1:223680763..223750807hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3870045
hg1970045
hg1870045
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3489217
Samples
Known GenesENAH, LBR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004851
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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