A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549295



Internal ID15990018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228276547..228413937hg38UCSC Ensembl
Innerchr1:228464248..228601638hg19UCSC Ensembl
Innerchr1:226530871..226668261hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38137391
hg19137391
hg18137391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv737467, nssv737468, nssv737469
Samples
Known GenesMIR6742, OBSCN, TRIM11, TRIM17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549295
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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