A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509069



Internal ID15476567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:27817460..27905956hg38UCSC Ensembl
Outerchr1:28143971..28232467hg19UCSC Ensembl
Outerchr1:28016558..28105054hg18UCSC Ensembl
Outerchr1:27828113..27916609hg17UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg385122
hg195122
hg185122
hg175122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621088
SamplesNA15510
Known GenesPPP1R8, RPA2, SCARNA1, STX12, THEMIS2
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)nsv509069
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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