A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509655



Internal ID15477153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36784535..36898029hg38UCSC Ensembl
Outerchr17:35141713..35255292hg19UCSC Ensembl
Outerchr17:32215826..32329405hg18UCSC Ensembl
Outerchr17:32215826..32329405hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg383455
hg193455
hg183455
hg173455
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619712
SamplesNA10860
Known Genes
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)nsv509655
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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