A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618773



Internal ID15471891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:69994915..70005481hg38UCSC Ensembl
Outerchr5:69290742..69301308hg19UCSC Ensembl
Outerchr5:69326498..69337064hg18UCSC Ensembl
Outerchr5:69326498..69337064hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3810567
hg1910567
hg1810567
hg1710567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508367
Supporting Variants
SamplesNA10860
Known GenesSMA4
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)nssv618773
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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