A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548588



Internal ID16335997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191461093..191522143hg38UCSC Ensembl
Innerchr1:191430223..191491273hg19UCSC Ensembl
Innerchr1:189696846..189757896hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3861051
hg1961051
hg1861051
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv702n54
Supporting Variantsnssv732603
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548588
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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