A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548255



Internal ID15988978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178668780..178688481hg38UCSC Ensembl
Innerchr1:178637915..178657616hg19UCSC Ensembl
Innerchr1:176904538..176924239hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3819702
hg1919702
hg1819702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173917
Samples1780854065_A
Known GenesMIR4424
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548255
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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