A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548251



Internal ID16335660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:177466267..177660588hg38UCSC Ensembl
Innerchr1:177435403..177629723hg19UCSC Ensembl
Innerchr1:175702026..175896346hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38194322
hg19194321
hg18194321
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729114
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548251
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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