A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509651



Internal ID15477149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8395733..8444515hg38UCSC Ensembl
Outerchr17:8299051..8347833hg19UCSC Ensembl
Outerchr17:8239776..8288558hg18UCSC Ensembl
Outerchr17:8239776..8288558hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg383683
hg193683
hg183683
hg173683
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621035
SamplesNA15510
Known GenesNDEL1, RNF222
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)nsv509651
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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