A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548560



Internal ID16335969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190684382..190776839hg38UCSC Ensembl
Innerchr1:190653512..190745969hg19UCSC Ensembl
Innerchr1:188920135..189012592hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3892458
hg1992458
hg1892458
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv698n54
Supporting Variantsnssv732575, nssv732576, nssv732577
Samples
Known GenesLOC440704
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548560
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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