A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509299



Internal ID15476797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:33048937..33173530hg38UCSC Ensembl
Outerchr9:33048935..33173528hg19UCSC Ensembl
Outerchr9:33038935..33163528hg18UCSC Ensembl
Outerchr9:33038935..33163528hg17UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg384457
hg194457
hg184457
hg174457
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623558
SamplesNA18994
Known GenesB4GALT1, LOC101929639, SMU1
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)nsv509299
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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