A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619348



Internal ID15471243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184538711..184616364hg38UCSC Ensembl
Outerchr3:184256499..184334152hg19UCSC Ensembl
Outerchr3:185739193..185816846hg18UCSC Ensembl
Outerchr3:185739201..185816854hg17UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg383358
hg193358
hg183358
hg173358
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508972
Supporting Variants
SamplesNA10860
Known GenesEPHB3
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)nssv619348
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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