A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509281



Internal ID15825307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:138166004..138207915hg38UCSC Ensembl
Outerchr8:139178247..139220158hg19UCSC Ensembl
Outerchr8:139247429..139289340hg18UCSC Ensembl
Outerchr8:139247429..139289340hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg383062
hg193062
hg183062
hg173062
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623546
SamplesNA18994
Known GenesFAM135B
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)nsv509281
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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