A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508309



Internal ID15824336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:121742636..121759490hg38UCSC Ensembl
Outerchr4:122663791..122680645hg19UCSC Ensembl
Outerchr4:122883241..122900095hg18UCSC Ensembl
Outerchr4:123021396..123038250hg17UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg3816855
hg1916855
hg1816855
hg1716855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618751
SamplesNA10860
Known GenesTMEM155
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv508309
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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