A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559412



Internal ID16346821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74282601..74319116hg38UCSC Ensembl
Innerchr12:74676381..74712896hg19UCSC Ensembl
Innerchr12:72962648..72999163hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3836516
hg1936516
hg1836516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175873
SamplesHGDP00963
Known GenesLOC100507377
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559412
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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