A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509258



Internal ID15476756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:53259839..53285955hg38UCSC Ensembl
Outerchr1:53725511..53751627hg19UCSC Ensembl
Outerchr1:53498099..53524215hg18UCSC Ensembl
Outerchr1:53437532..53463648hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384281
hg194281
hg184281
hg174281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619795
SamplesNA10860
Known GenesLRP8
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)nsv509258
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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