A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546565



Internal ID16333974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72549905..72624925hg38UCSC Ensembl
Innerchr1:73015588..73090608hg19UCSC Ensembl
Innerchr1:72788176..72863196hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3875021
hg1975021
hg1875021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv324n54
Supporting Variantsnssv717532, nssv717528, nssv717530, nssv717531, nssv717529
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546565
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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