A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548466



Internal ID16335875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188462688..188584468hg38UCSC Ensembl
Innerchr1:188431819..188553599hg19UCSC Ensembl
Innerchr1:186698442..186820222hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38121781
hg19121781
hg18121781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv677n54
Supporting Variantsnssv730682
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548466
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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