A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548656



Internal ID15989379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192314099..192403544hg38UCSC Ensembl
Innerchr1:192283229..192372674hg19UCSC Ensembl
Innerchr1:190549852..190639297hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3889446
hg1989446
hg1889446
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv717n54
Supporting Variantsnssv732826
Samples
Known GenesRGS21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548656
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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