A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612145



Internal ID16052868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124553087..124564440hg38UCSC Ensembl
Innerchr8:125565328..125576681hg19UCSC Ensembl
Innerchr8:125634509..125645862hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3811354
hg1911354
hg1811354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156873
SamplesHGDP00862
Known GenesMTSS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612145
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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