A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511057



Internal ID15478551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46287412..46511318hg38UCSC Ensembl
Outerchr17:44364778..44588684hg19UCSC Ensembl
Outerchr17:41720555..41944000hg18UCSC Ensembl
Outerchr17:41720555..41944000hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38223907
hg19223907
hg18223446
hg17223446
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622420, nssv618627
SamplesCHM, NA10860
Known GenesARL17A, ARL17B, LRRC37A, NSFP1
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)nsv511057
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex2
Frequencyn/a


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