A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548561



Internal ID16335970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190684382..190844159hg38UCSC Ensembl
Innerchr1:190653512..190813289hg19UCSC Ensembl
Innerchr1:188920135..189079912hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38159778
hg19159778
hg18159778
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv732578, nssv732579
Samples
Known GenesLOC440704
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548561
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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