A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619802



Internal ID15818383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:54296469..54410994hg38UCSC Ensembl
Outerchr1:54762142..54876667hg19UCSC Ensembl
Outerchr1:54534730..54649255hg18UCSC Ensembl
Outerchr1:54474163..54588688hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384675
hg194675
hg184675
hg174675
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509291
Supporting Variants
SamplesNA10860
Known GenesSSBP3
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)nssv619802
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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