A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508322



Internal ID15824349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:151695927..151757799hg38UCSC Ensembl
Outerchr4:152617079..152678951hg19UCSC Ensembl
Outerchr4:152836529..152898401hg18UCSC Ensembl
Outerchr4:152974684..153036556hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3861873
hg1961873
hg1861873
hg1761873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619946
SamplesNA15510
Known GenesPET112
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)nsv508322
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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