A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623994



Internal ID15475881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179063658..179069658hg38UCSC Ensembl
Outerchr5:178490659..178496659hg19UCSC Ensembl
Outerchr5:178423265..178429265hg18UCSC Ensembl
Outerchr5:178423265..178429265hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510009
Supporting Variants
SamplesNA18994
Known GenesZNF354C
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)nssv623994
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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