A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548257



Internal ID16335666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178690798..178704939hg38UCSC Ensembl
Innerchr1:178659933..178674074hg19UCSC Ensembl
Innerchr1:176926556..176940697hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3814142
hg1914142
hg1814142
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv638n54
Supporting Variantsnssv1173919, nssv729120, nssv729121, nssv1173918
SamplesHGDP00943, HGDP00913
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548257
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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