A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548700



Internal ID16336109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194813937..194880559hg38UCSC Ensembl
Innerchr1:194783067..194849689hg19UCSC Ensembl
Innerchr1:193049690..193116312hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3866623
hg1966623
hg1866623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv726n54
Supporting Variantsnssv733901
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548700
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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