A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619327



Internal ID15817908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51430426..51466285hg38UCSC Ensembl
Outerchr3:51467878..51500301hg19UCSC Ensembl
Outerchr3:51442918..51475341hg18UCSC Ensembl
Outerchr3:51442918..51475341hg17UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg383719
hg193719
hg183719
hg173719
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508920
Supporting Variants
SamplesNA10860
Known GenesVPRBP
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)nssv619327
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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