A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548350



Internal ID15989073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180781565..180786052hg38UCSC Ensembl
Innerchr1:180750701..180755188hg19UCSC Ensembl
Innerchr1:179017324..179021811hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg384488
hg194488
hg184488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv657n54
Supporting Variantsnssv729719
Samples
Known GenesXPR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548350
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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