A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549262



Internal ID16336671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225004150..225132196hg38UCSC Ensembl
Innerchr1:225191852..225319898hg19UCSC Ensembl
Innerchr1:223258475..223386521hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38128047
hg19128047
hg18128047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv834n54
Supporting Variantsnssv737360
Samples
Known GenesDNAH14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549262
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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