A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508869



Internal ID15476367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10956200..11008459hg38UCSC Ensembl
Outerchr1:11016257..11068516hg19UCSC Ensembl
Outerchr1:10938844..10991103hg18UCSC Ensembl
Outerchr1:10950523..11002782hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg383196
hg193196
hg183196
hg173196
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621082
SamplesNA15510
Known GenesC1orf127
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)nsv508869
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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