A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622532



Internal ID15821105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:128039212..128069338hg38UCSC Ensembl
Outerchr5:127374904..127405030hg19UCSC Ensembl
Outerchr5:127402803..127432929hg18UCSC Ensembl
Outerchr5:127402803..127432929hg17UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3830127
hg1930127
hg1830127
hg1730127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508378
Supporting Variants
SamplesNA18994
Known GenesFLJ33630
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)nssv622532
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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