A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548132



Internal ID15988855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167856247..167907378hg38UCSC Ensembl
Innerchr1:167825485..167876616hg19UCSC Ensembl
Innerchr1:166092109..166143240hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3851132
hg1951132
hg1851132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173220
Samples1780854016_A
Known GenesADCY10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548132
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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