A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509663



Internal ID15477161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:58263441..58345353hg38UCSC Ensembl
Outerchr17:56340802..56422714hg19UCSC Ensembl
Outerchr17:53695801..53777713hg18UCSC Ensembl
Outerchr17:53695801..53777713hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg383033
hg193033
hg183033
hg173033
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621042
SamplesNA15510
Known GenesBZRAP1, BZRAP1-AS1, LPO, MIR142, MIR4736, MPO, SUPT4H1
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)nsv509663
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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